Airway Obstruction as the First Clue: Syndromic Neurocristopathy With Neuroblastoma, Hirschsprung Disease, and PHOX2B Mutation in a Neonate.

Definitive ileostomy in Total Colonic Aganglionosis: results and considerations from a single-center experience.

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].

Sod1 trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal Ret suppression and glial remodeling.

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Post-Surgical Gut Microbiota Alterations in Pediatric Patients with Intestinal Disorders.

Paediatric caecal volvulus, a rare presentation of african degenerative leiomyopathy - a case report.

Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.

Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.

Surgical repair of prolapsed stoma via the buttonpexy approach: a case series.

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Is trisomy 21 a risk factor for postoperative complications after pediatric surgery for neonatal gastrointestinal disease? A retrospective study using a National Clinical Database in Japan.

Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.

Sclerotherapy as first-line treatment of rectal prolapse in children, including those with anorectal malformations.

Morphological evidence suggestive of a hierarchical mode of glial cell diversification and intrinsic developmental plasticity within the murine enteric nervous system.

Abdominal compartment syndrome with colonic hypoganglionosis and massive colonic distension in a young adult: A case report.

Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

A Case of Peutz-Jeghers Syndrome Complicated With Hirschsprung Disease.

The relation between Down syndrome and co-occurring conditions in children and young adults: A population-based cohort in Denmark, 1977-2016.

Microbiota decolonization of bacterial pathogens in pediatric surgery-related intestinal disorders: Insights on current strategies and future outlook.

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

Bowel function and quality of life in adolescents with Hirschsprung Disease.

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Abdominal compartment syndrome in the pediatric population - Case series and review of the literature.

Concurrent congenital diaphragmatic hernia and Hirschsprung's disease: a diagnostic dilemma with therapeutic implications-a case report and literature review.

Hirschprung's Disease and Thoracic Limb Amputation by Amniotic Bands in a Patient With Down Syndrome: A Case Report.

Neurogastroenterology: Current insights into gastrointestinal innervation in health and disease.

Impaired nutrient absorption, reduced bone mass and alterations in the gut microbiome contribute to postnatal growth retardation in a mouse model of MWS.

Meconium-related obstruction: Contemporary experience in a multi-institutional consortium.

ZEB2: a multifunctional regulator of neural injury repair.

Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.

Alteration of Hair Melanin in Patients With Mowat-Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.

Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome.

Neuropathologic Findings in Mowat-Wilson Syndrome at Autopsy, Including a Suprasellar Spindle Cell Lipoma.

Trio Exome Sequencing in VACTERL Association.

Colorectal cancer at the anastomotic site following childhood surgery for hirschsprung disease: a rare case report.

Genomic testing for RET in the clinic: UK and global perspective.

Beckwith-Wiedemann syndrome with Hirschsprung's disease and Meckel's diverticulum.

Unicentric Series of 82 Consecutive Patients With Ultralong Hirschsprung Disease: How Experience Leads Management.

Congenital Central Hypoventilation Syndrome (CCHS): Patient Quality of Life and Caregiver Burden.

Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

Conditions that mimic Hirschsprung's disease, but that are not Hirschsprung's disease.

Commentary - Mowat-Wilson Syndrome in Hirschsprung: Something Special or Just a Generic Problem?

Herlyn-Werner-Wunderlich Syndrome Presenting as an Incidental Retrovesical Cyst in an Infant: A Case Report.

Advancing Pediatric Surgery with Indocyanine Green: Nonhepatobiliary Applications and Outcomes.

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Modified Martin Procedure for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS).

RET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930-2021: A Nationwide Study.

ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.

Chromosomal localization of PHOX2B during M-phase is disrupted in disease-associated mutants.

Clinical Characteristics and Postoperative Functional Outcomes in Children With Mowat-Wilson Syndrome and Hirschsprung's Disease: A Single-center Study.

Regulation of feeding and defecation in Drosophila by trpγ, piezo, and DH44R2.

[Visceral perforations in a child with Ehlers-Danlos syndrome type IV].

Fertility and Sexual Function in Males with Hirschsprung's Disease: A Nordic Cross-Sectional Study.

[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.

A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.

Living with a RET gene mutation: patient perspectives.

Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.

Congenital Anomalies of the Gastrointestinal Tract in Conjunction of Congenital Heart Diseases in Infants With Trisomy 21.

Serial Transverse Enteroplasty (STEP) for Short Bowel Syndrome (SBS) in Children: A Multicenter Study on Long-term Outcomes.

Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.

SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.

Evaluation and Management of Total Colonic Hirschsprung Disease: A Comprehensive Review From the American Pediatric Surgical Association (APSA) Hirschsprung Disease Interest Group.

Surgical Outcomes for Patients With Trisomy 21 and Hirschsprung's Disease: An NSQIP-Pediatric Study.

Use of Cosmetics in Pregnancy and Neurotoxicity: Can It Increase the Risk of Congenital Enteric Neuropathies?

A multi-center cross-sectional comparison of parent-reported quality of life and bowel function between anorectal malformation and Hirschsprung's disease patients with versus those without Down syndrome.

Mowat-Wilson syndrome: Case report.

Achieving Digestive Autonomy and Gastrointestinal Continuity in a Patient with Short Bowel Syndrome Secondary to Concomitant Jejunal Atresia and Small Intestinal Hirschsprung's Disease.

The use of postoperative calibrations in Hirschsprung disease: a practice to reconsider?

Are the complications after laparo-assisted endo-rectal pull-through for Hirschsprung disease related to the change of the anal tone?

Hirschsprung's disease and Chilaiditi syndrome in young adults.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.

Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review.

Investigations, management and outcome of neonates presenting with distal intestinal obstruction: challenging the need for contrast enemas.

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.

The role of interleukin-36 in health and disease states.

Major surgical conditions of childhood and their lifelong implications: comprehensive review.

Prevalence and Outcomes of Gastrointestinal Anomalies in Down Syndrome.

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.

Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.

Non-syndromic Hirschsprung's disease as a result of a RET gene variant.

Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.

Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge.

Skipped Aganglionic Lengthening Transposition (SALT) is highly effective to achieve enteral autonomy in selected patients with intestinal failure secondary to total intestinal aganglionosis.

Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.

PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.

Elevated transaminases in congenital central hypoventilation syndrome.

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.

Neurodevelopmental evaluation of children who were operated due to congenital anomaly with the 'Ages and Stages Questionnaire (ASQ)' and 'ASQ: Social-Emotional'.

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

A Narrative Review of Patient-Reported Outcome Measures and Their Application in Recent Pediatric Surgical Research: Advancing Knowledge and Offering New Perspectives to the Field.

Unilateral progressive anterior iris adhesions in Mowat-Wilson syndrome: a new ocular finding.

Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.

A Rare Case of Shprintzen-Goldberg craniosynostosis syndrome with Hirschsprung disorder: Dental characteristics and its Clinical Management.

ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome.

Endothelin signaling in development.

Parenteral support and micronutrient deficiencies in children with short bowel syndrome: A comprehensive retrospective study.

ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish.

Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.

Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene.

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.

Mowat-Wilson syndrome factor ZEB2 controls early formation of human neural crest through BMP signaling modulation.

Images: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea.

The Effect of the Flint Water Crisis Secondary to Increased Lead Levels in Drinking Water on Constipation in Children in the City of Flint, Michigan, USA.

The Crucial Role of the Interstitial Cells of Cajal in Neurointestinal Diseases.

Deletion of the Neuronal Transcription Factor Satb1 Induced Disturbance of the Kinome and Mechanisms of Hypoxic Preconditioning.

Present state of intestinal transplantation in Japan.

"Liu-Liang-Chung" syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation.

Prognostic factors for persistent obstructive symptoms in patients with Hirschsprung disease following pull-through.

Cutting-edge regenerative therapy for Hirschsprung disease and its allied disorders.

Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome.

Associated congenital heart disease with Hirschsprung's disease: a retrospective cohort study on 2,174 children.

Short and Long-Term Outcomes in Hirschsprung Disease: Are the Syndrome-Associated Patients Really Doing Worse?

The Burden of Congenital Heart Disease and Urogenital Lesions in a National Cohort of Hirschsprung Patients.

L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice.

Japanese siblings with cartilage-hair hypoplasia exhibiting different severity.

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.

Population-based prevalence study of common congenital malformations of the alimentary tract and abdominal wall in Thailand: a study using data from the National Health Security Office.

Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis.

Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes.

A Novel ANO1 Gene Variant is Associated with Intestinal Dysmotility Syndrome Masquerading as Hirschsprung Disease: A Case Report.

ICRI White Paper: An Update on Role of Conventional Radiography in Imaging of Pediatric Gastrointestinal Tract.

Interstitial cells of Cajal: clinical relevance in pediatric gastrointestinal motility disorders.

Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome.

Zeb2 DNA-Binding Sites in Neuroprogenitor Cells Reveal Autoregulation and Affirm Neurodevelopmental Defects, Including in Mowat-Wilson Syndrome.

Update on the Pathogenesis of the Hirschsprung-Associated Enterocolitis.

Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome.

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.

Accuracy of congenital anomaly coding in live birth children recorded in European health care databases, a EUROlinkCAT study.

Hirschsprung-associated inflammatory bowel disease: A multicenter study from the APSA Hirschsprung disease interest group.

Diagnosing Hirschsprung Disease in Children Younger than 6 Months of Age: Insights in Incidence of Complications of Rectal Suction Biopsy and Other Final Diagnoses.

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome.

Exome sequencing identifies novel genes and variants in patients with Hirschsprung disease.

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.

A New Transgenic Tool to Study the Ret Signaling Pathway in the Enteric Nervous System.

Surgical Reconstruction Options for a Case of Near Total Intestinal Aganglionosis.

Reconstructing the anal sphincters to reverse iatrogenic overstretching following a pull-through for Hirschsprung disease. One-year outcomes.

A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma.

Dscam1 overexpression impairs the function of the gut nervous system in Drosophila.

Megacolon as a Feature of Suspected Robinow Syndrome.

Safety and Feasibility of Indocyanine Green Fluorescence Angiography in Pediatric Gastrointestinal Surgery: A Systematic Review.

Social Determinants of Health and Hirschsprung-associated Enterocolitis.

Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.

Sexual function and lower urinary tract symptoms after minimally invasive endorectal pull-through in adolescent males with Hirschsprung disease.

Real-world etiologies and treatments of pediatric short bowel syndrome in Japan.

Adult patients with allied disorders of Hirschsprung's disease in emergency department: An 11-year retrospective study.

[Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome].

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C.

Clinical and genetic approach in the characterization of newborns with anorectal malformation.

Developmental disorders affecting the respiratory system: CCHS and ROHHAD.

Physical organogenesis of the gut.

An unusual case of abdominal compartment syndrome from a massive faecaloma.

[Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene].

Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021.

Surgical Treatment of Short Bowel Syndrome-The Past, the Present and the Future, a Descriptive Review of the Literature.

NR2F1 regulates a Schwann cell precursor-vs-melanocyte cell fate switch in a mouse model of Waardenburg syndrome type IV.

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.

Currarino syndrome as an incidental radiologic finding in a patient with acute flank pain: A case report.

Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.

Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.

Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.

What parents need to know about Hirschsprung disease.

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

[Clinical features of epilepsy in 5 children with Mowat-Wilson syndrome].

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.

Multidrug-Resistant Corynebacterium striatum Developed During Treatment of Ommaya Reservoir Infection.

Contrast Enema: Solving Diagnostic Dilemmas in Neonates With Lower Intestinal Obstruction.

Life threatening congenital hydropericardium in a newborn with Down syndrome, transient abnormal myelopoiesis, Hirschsprung disease and a ventricular septal defect.

Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach.

Waardenburg-Shah syndrome rare and challenging case report from Somalia.

RET receptor signaling: Function in development, metabolic disease, and cancer.

Hirschsprung disease in Down syndrome: An opportunity for improvement.

Cartilage-hair hypoplasia with T-cell dysfunction.

Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging.

Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report.

Postoperative hyperthermia-induced multiple organ failure in a child with Down syndrome: a case report.

Congenital anomalies of the tubular gastrointestinal tract.

A Network of Anomalies Prompting VACTERL Workup in a Trisomy 21 Newborn.

Outcome of Total Colonic Aganglionosis Involving the Small Bowel Depends on Bowel Length, Liver Disease, and Enterocolitis.

Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course.

Early Use of Everolimus as a Third Immunosuppressive Agent for Intestinal Transplantation: A Report of 2 Cases.

Mowat-Wilson syndrome presenting with Shone's complex cardiac anomaly.

Sonographic findings of total colonic aganglionosis in a neonate with Haddad syndrome: A case report.

[Analysis of ZEB2 gene variation in two patients with Mowat-Wilson syndrome].

Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay.

Stercoral ulcer after Hirschsprung's disease surgery.

The role of GSTM1 gene polymorphism in pathophysiology, evaluation, and management of constipation of anorectal outlet obstruction.

[Etiological analysis and surgical method selection of adult megacolon].