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注意：仅列出部分参考文献，下载原文获取全部文献信息。Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
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Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A
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Novel pathogenic ACAN variants in non-syndromic short stature patients
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Congenital Immunodeficiency in an Individual with Wiedemann-Steiner Syndrome Due to a Novel Missense Mutation in KMT2A
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation
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