Daneman Syndrome Revisited.

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

A Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.

Bardet-Biedl syndrome in two sibling pairs: a case series.

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.

Cardioacrofacial dysplasia 1: a case report and literature review.

Bardet-Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort.

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

A Novel ATXN7L3 De Novo Variant Underlies Harel-Tora Neurodevelopmental Syndrome (HATONS) With Pre-Axial Polydactyly.

Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.

A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.

Genetic Syndromes Associated With Congenital Upper Limb Differences.

[Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene].

Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster.

[Culler-Jones syndrome polymorphism].

Bardet-Biedl syndrome presenting with early-onset infantile obesity.

Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation.

Retinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort.

Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome.

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.

Complications Following Congenital Hand and Upper Limb Surgery: Lessons From the CoULD Registry.

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

Case Report: A case of Culler-Jones syndrome caused by GLI2 gene mutation.

Unexpected Diagnosis of Fahr's Disease in a Patient with Severe Obesity and a Heterozygotic Variant in the TMEM67 Gene.

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.

Assessment of genetic variation(s) in BBS10, BBS6, and BBS12 in a family from Sindh, Pakistan diagnosed with Bardet-Biedl Syndrome.

Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1: First Case from Türkiye.

Expanding the Phenotypic and Genotypic Spectrum of Postaxial Polydactyly: A Study of Four Consanguineous Pakistani Families.

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome.

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.

Expanding the phenotype associated with biallelic SCNM1 variants.

Identification of conserved residues essential for the ciliogenic functions of WDPCP.

Phenotypic Spectrum and Diagnostic Challenges in Klippel-Trenaunay Syndrome: A Case Series.

[Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis].

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Shortened and Hypomineralized Bones, Renal Agenesis, and a Heart Defect: Prenatal Diagnosis of a GLI3 Variant.

Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.

A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.

The molecular characterization of seven novel GLI family zinc finger 3 (GLI3) variants in Chinese families with limb malformations.

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease.

Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels.

First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review.

A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7.

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali.

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Polydactyly and Risk of Cancer.

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.

Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree.

Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome.

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.

Exploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review.

Bardet-Biedl syndrome: a rare cause of end-stage kidney disease. Case report.

Modeling MPPH syndrome in vivo using Breasi-CRISPR.

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Comprehensive analysis of the EFNB1 gene c.451G>A(p.Gly151Ser) mutation: structural, functional, and pathogenicity insights through in silico analysis.

MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

[Two cases of skeletal ciliopathies in one family].

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome.

Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations.

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

Longitudinal Insights Into Polydactyly-Macrocephaly Syndrome: A Case Report of an Adult With a Recurrent MAX Variant.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Bardet-Biedl Syndrome: Report of a Classical Case from North India.

Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.

Assessing Accuracy of Chat Generative Pre-Trained Transformer's Responses to Common Patient Questions Regarding Congenital Upper Limb Differences.

Should GLP-1 receptor agonist therapy be used to treat obesity in Bardet-Biedl syndrome?

The CoULD Ulnar Polydactyly Classification: A Multicenter Analysis.

Bardet-Biedl syndrome in a Syrian adolescent: a rare case report.

Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene.

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene.

Statewide Prevalence of Congenital Hand Anomalies: A 6-Year Review of Patients Presenting to Mississippi's Only Children's Hospital.

Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Predictors of Syndromic Association in Ulnar Polydactyly: Analysis of a Multicenter Congenital Hand Differences Registry in the United States.

Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.

[Prenatal phenotype and genetic analysis of two fetuses with Bardet-Biedl syndrome].

The incomplete cloaca and Bardet-Biedl syndrome: A remarkable association with broader implications on patient's care.

Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome.

Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972-2012).

Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.

A Rare Footprint: A Case Report of Isolated Pre-Axial Fully Developed Supernumerary Toe.

A Beacon of Hope: Confronting Bardet-Biedl Syndrome in Pakistan's Health Care Frontier.

Trifid Epiglottis with Midline Cleft Lip: A Rare Craniofacial Anomaly-First Case Report.

Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.

Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes.

The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia.

A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome.

Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.

Asymptomatic Preaxial Polydactyly of Bifid Hallux Without a Supernumerary Digit Presenting With Earlobe Malformations: A Rare Case Report.

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.

Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants.

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits.

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.

Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.

Epidemiology of Congenital Hand Anomalies at a Single Center in Mainland China: An Analysis of 1,415 Cases.

Patterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital-Based Surveillance Study.

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.

Regulation of INPP5E in Ciliogenesis, Development, and Disease.

Fetal Tetra-Amelia Birth: A Case Report.

A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.

Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.

Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report.

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome.

Phenotype-to-Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study.

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Delayed identification of Bardet-Biedl syndrome.

An 8-year review of upper limb congenital differences at a teaching hospital in Jordan: A retrospective study.

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021.

Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.

The Prenatal Ultrasound Diagnosis and Perinatal Outcome of Polydactyly: A Retrospective Cohort Study, 2016-2023.

Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

[Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review].

Cant1 Affects Cartilage Proteoglycan Properties: Aggrecan and Decorin Characterization in a Mouse Model of Desbuquois Dysplasia Type 1.

Comparison of total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in Hunan Province, China, 2016-2020.

Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

Musculoskeletal Issues in Children and Adolescents: Abnormal Findings on the Newborn Musculoskeletal Examination.

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene.

VACTERL Association in a Fetus With a Normal Genetic Profile.

Functional analysis of a novel pathogenic variant in CREBBP associated with bone development.

Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.

Thurston Syndrome: An Insight of a Rare Case and Literature Review.

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.

Prenatal diagnosis of Joubert syndrome: A case report.

Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child.

A Case of Postaxial Polydactyly Managed Under Local Anesthesia.

An unusual presentation of pacifier thumb duplication with VACTERL association: Case report and review of literature.

Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.

Comparison of Surgical Wait Times and Procedure Length in the Management of Postaxial Polydactyly Using Local or General Anesthesia.

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.

Polybrachysyndactyly in all 4 extremities: Case report.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.

Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome.

Gyratory Seizures in Hypothalamic Hamartoma.

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

Congenital three generation wide familial non-syndromic polydactyly.

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

Cancer risk in individuals with polydactyly: a Swedish population-based cohort study.

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine.

Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020.

MYCN in human development and diseases.

Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report.

A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9).

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.

In the Shadows of Rarity: A Case Report of Syndromic Cleft Lip and Palate!

Postaxial polydactyly of the bilateral hand in toddler: Case report and literature review.

Polydactyly-Myopia Syndrome: Genetic and Ophthalmologic Perspectives.

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Bardet-Biedl syndrome with unique manifestations of congenital giant nevi and refractory anemia: a case report from Palestine.

Vacterl syndrome: Medical and stomatological considerations for comprehensive patient management.

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy.

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.

The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers.

A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report.

Rosai Dorfman Disease: A Rare Case Report.

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

A Rare Presentation of Laurence-Moon-Bardet-Biedl Syndrome: Atypical Retinitis Punctata Albescens and Non-alcoholic Fatty Liver Disease.

Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review.

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].

Weyers Acrofacial Dysostosis: A Case Report.

Ellis-van Creveld syndrome: a case report.