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

Abstract：

:Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Whole Exome Sequencing and supported by some characteristic clinical features. Genotype and phenotype of the patient is compared with the earlier reported patients in the literature, in an attempt to broaden our knowledge of this rare syndrome.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Aggarwal A,Rodriguez-Buritica DF,Northrup H

doi

10.1016/j.ejmg.2017.03.006

subject

Has Abstract

pub_date

2017-06-01 00:00:00

pages

285-288

issue

6

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(16)30244-0

journal_volume

60

pub_type

杂志文章,评审

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