Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan

Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan

Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder. Patients with WSS have characteristics of growth retardation, facial dysmorphism, hypertrichosis cubiti (HC), and neurodevelopmental delays. WSS is in an autosomal dominant inherited pattern caused by a mutation of the <i>KMT2A</i...

Full description

Bibliographic Details
Main Authors: Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Children
Subjects:
<i>KMT2A</i>
Wiedemann–Steiner syndrome
whole-exome sequencing
Taiwan
Online Access:https://www.mdpi.com/2227-9067/8/11/952

Similar Items

Similar Items