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Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report

RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-...

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Detalles Bibliográficos
Autores principales:	Jinxiu, Liu, Shuimei, Liang, Ming, Xue, Jonathan, Liu CS., Xiangju, Liu, Wenyuan, Duan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2020
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440326/ https://www.ncbi.nlm.nih.gov/pubmed/32311999 http://dx.doi.org/10.1097/MD.0000000000019813

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