期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 60, 期 6, 页码 285-288出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2017.03.006
关键词
Wiedemann-Steiner syndrome; KMT2A; Novel pathogenic variant
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. (C) 2017 Elsevier Masson SAS. All rights reserved.
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