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

• Главные авторы: Chung-Lin Lee (Автор), Chih-Kuang Chuang (Автор), Huei-Ching Chiu (Автор), Ru-Yi Tu (Автор), Yun-Ting Lo (Автор), Ya-Hui Chang (Автор), Hsiang-Yu Lin (Автор), Shuan-Pei Lin (Автор)
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• Опубликовано: MDPI AG, 2021-10-01T00:00:00Z.
• Предметы: article
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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...