Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Por um escritor misterioso
Last updated 17 outubro 2024
Features of patients #95, #80, #103 and #173. Top left: features of pt
Frontiers Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants
Genes, Free Full-Text
PDF] KMT2A: Umbrella Gene for Multiple Diseases
Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies - Giangiobbe - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases - Baer - 2018 - Clinical Genetics - Wiley Online Library
Giuseppe MERLA, Full professor, PhD, University of Naples Federico II, Naples, UNINA, Department of Molecular Medicine and Medical Biotechnology
Genes, Free Full-Text
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
Frontiers Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome
IJMS, Free Full-Text
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
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