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Article

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

Medicine - 1 Apr 2020

Jinxiu Liu, Shuimei Liang, Ming Xue, Jonathan Liu Cs, Xiangju Liu, Wenyuan Duan

Abstract excerpt

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-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs*10) in the KMT2A...

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Identifiers

PMID: 32311999
DOI: 10.1097/MD.0000000000019813
PMCID: PMC7440326

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