Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations.

Successful ECT in a Patient With Wiedemann-Steiner Syndrome and Insights From Twin-Based EEG Analysis.

Digital Transformation and the Reconstruction of Nursing Professional Identity: Moving Beyond the Intangible Professional Project.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.

Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann-Steiner and ODLURO Syndromes.

Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders.

Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.

Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.

Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases.

KMT2A-CBL fusion gene in the first reported case of T-cell acute lymphoblastic leukemia associated with Wiedemann-Steiner syndrome.

Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.

A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant.

MLL/WDR5 complex recruits centriolar satellite protein Cep72 to regulate microtubule nucleation and spindle formation.

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Sleep correlates of behavior functioning in Cornelia de Lange syndrome.

Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome.

Trio-based whole exome sequencing in patients with ectopic posterior pituitary.

Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome.

Atlantoaxial facet fixation using cervical facet cage: technical case report and review of the literature.

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.

Clinical application of whole exome sequencing technology in small-for-gestational-age children.

Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report.

A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.

Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome.

The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality.

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome.

The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants.

[A case of Wiedemann-Steiner syndrome characterized by amenorrhoea, hypertrichosis, short stature, intellectual disability].

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.

Evaluation of immunological abnormalities in patients with rare syndromes.

Elemental Milk Formula as a Possible Cause of Hypophosphatemic Rickets in Wiedemann-Steiner Syndrome.

[Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene].

Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.

Anxiety in Wiedemann-Steiner syndrome.

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome.

Wiedemann-Steiner Syndrome: Case Report and Review of Literature.

Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome.

Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing.

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.

Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review.

[Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome].

Feeding disorder in a patient with Wiedemann-Steiner syndrome.

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.

KMT2A: Umbrella Gene for Multiple Diseases.

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

[Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome].

Severe Hip Dysplasia in Wiedemann-Steiner Syndrome Treated with Bilateral Bernese Periacetabular Osteotomy: A Case Report.

Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan.

Corrigendum Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021;185A(6):1649-1665. Doi:10.1002/ajmg.a.62124".

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.

Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.

[A case of Wiedemann-Steiner syndrome caused by a novel variation of the KMT2A gene].

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.

Wiedemann-Steiner syndrome: A case report.

[Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case].

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.

Corrigendum to "Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. Am J Med Genet Part A. 2017;173A:2821-2,825".

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.

Physical Therapy Management of Wiedemann-Steiner Syndrome From Birth to 3 Years.

Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation.

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.

Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.

Wiedemann-Steiner syndrome in two patients from Portugal.

A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.

A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia.

The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

[Study of de novo point mutations in known genes among patients with unexplained intellectual disability or developmental delay].

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.

Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.