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

• Prif Awduron: Chung-Lin Lee (Awdur), Chih-Kuang Chuang (Awdur), Huei-Ching Chiu (Awdur), Ru-Yi Tu (Awdur), Yun-Ting Lo (Awdur), Ya-Hui Chang (Awdur), Hsiang-Yu Lin (Awdur), Shuan-Pei Lin (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: MDPI AG, 2021-10-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

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...