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

Internet

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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