Article

Case Report: Wiedemann-Steiner syndrome with a new frameshift mutation in KMT2A

2024-01-31

Abstract excerpt

Here we report a 5 year old girl with a new frameshift mutation (c.2318dup:p.S774Vfs*12) in the KMT2A gene.The patient’s clinical manifestations: postnatal growth retardation, early teething, rapid tooth replacement,dysplasia of dentition; wide eye spacing; generalized hirsutism; stubby fingers; low muscle tension and retarded mental development.

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Literature Corpus work: a974c330-9890-51b1-99bf-3a08a5e1bced
DOI: 10.22541/au.170667836.69539164/v1

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