期刊
CLINICAL GENETICS
卷 83, 期 3, 页码 201-211出版社
WILEY
DOI: 10.1111/cge.12051
关键词
Kabuki syndrome; KMT2D; MLL2; review
资金
- German Federal Ministry of Education and Research (BMBF) [01GM1211A, 01GM1109C]
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on KS, provide genotypephenotype correlations and propose a strategic clinical and molecular diagnostic approach for patients with suspected KS.
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