Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
作者： N. Miyake , Y. Tsurusaki , E. Koshimizu , N. Okamoto , T. Kosho
DOI: 10.1111/CGE.12586
关键词:
摘要: … in KMT2A (also known as MLL), a gene encoding a histone methyltransferase. Here, we identify six novel KMT2A … KMT2A mutations and clinical features are summarized in our six …
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