Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

A Growth Chart for KBG Syndrome.

KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.

Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.

Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature.

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion.

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review.

KBG syndrome-associated protein ANKRD11 regulates SETD5 expression to modulate rRNA levels and translation.

[Clinical and genetic investigation of 4 children with microdeletion KBG syndrome].

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire.

Early-Onset Parkinson's Disease in a Patient With a De Novo Frameshift Variant of the ANKRD11 Gene and KBG Syndrome.

Tethered cord syndrome in a paediatric patient with KBG syndrome.

Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder.

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

[Type II arteriovenous communication in a child with KBG syndrome].

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

KBG Syndrome in 16 Indian Individuals.

Assessment of Adaptive Functioning and the Impact of Seizures in KBG Syndrome.

Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.

Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.

Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age.

The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function.

Globe-shaped central incisors in a patient with otodental syndrome.

Natural history of adults with KBG syndrome: A physician-reported experience.

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.

Olfactory bulb anomalies in KBG syndrome mouse model and patients.

Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype.

Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome.

Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.

Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype.

Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.

Epilepsy in KBG Syndrome: Report of Additional Cases.

Ocular manifestations in a cohort of 43 patients with KBG syndrome.

Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report.

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

A case of early-onset Parkinson's disease in a patient with KBG syndrome.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.

[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].

Possible Gynecologic Manifestations of Keishi-Bukuryo-Gan Syndrome: A Case Report.

Tethered cord syndrome in KBG syndrome.

Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.

[Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

[Audiological phenotypes of KBG syndrome: a case report and literatures review].

Epilepsy in KBG syndrome.

Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome.

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

Natural history of KBG syndrome in a large European cohort.

A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].

KBG syndrome mimicking genetic generalized epilepsy.

Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.

Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.

Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.

Ear lobe creases: A novel phenotypic feature in KBG syndrome.

KBG syndrome in a Chinese population: A case series.

Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance.

Congenital heart defects in molecularly confirmed KBG syndrome patients.

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.

Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.

Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases.

Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes.

Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Two case reports of KBG syndrome with Dandy-Walker variant.

[Ophthalmologic signs in a KBG syndrome, a rare genetic disease].

[Gender difference in clinical manifestations of KBG syndrome due to variants of ANKRD11 gene].

Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.

The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development.

ANKRD11 variants: KBG syndrome and beyond.

Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.

MACRODONTIA: A brief overview and a case report of KBG syndrome.

A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.

DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome.

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.

Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review.

A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome.

[Analysis of ANKRD11 gene variant in a family affected with KBG syndrome].

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.

16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature.

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.

Growth hormone therapy for children with KBG syndrome: A case report and review of literature.

KBG syndrome in two patients from Egypt.

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.

Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome.

A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature.

Novel Mutations and Unreported Clinical Features in KBG Syndrome.

KBG syndrome presenting with brachydactyly type E.

Exploring the behavioral and cognitive phenotype of KBG syndrome.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

Isolated tricuspid valve Staphylococcus lugdunensis endocarditis in patient with a KBG syndrome.

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?

Needle breakage during an inferior alveolar nerve block in a child with KBG syndrome: A case report.

[The first Danish patient with a recognisable genetic KBG syndrome].

The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder.

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.

ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway.

Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

KBG syndrome: An Australian experience.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

KBG syndrome: 16q24.3 microdeletion in an Indian patient.

KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Clinical and genetic aspects of KBG syndrome.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

An unusual case of KBG syndrome with unique oral findings.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.