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

• Main Authors: Chung-Lin Lee (Author), Chih-Kuang Chuang (Author), Huei-Ching Chiu (Author), Ru-Yi Tu (Author), Yun-Ting Lo (Author), Ya-Hui Chang (Author), Hsiang-Yu Lin (Author), Shuan-Pei Lin (Author)
• Format: Book
• Published: MDPI AG, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: 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...