Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A 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 KMT2A gene (NM_00119...

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Detalles Bibliográficos
Autores principales: Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620998/
https://www.ncbi.nlm.nih.gov/pubmed/34828665
http://dx.doi.org/10.3390/children8110952

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620998/
https://www.ncbi.nlm.nih.gov/pubmed/34828665
http://dx.doi.org/10.3390/children8110952

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