Article
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
Clinical genetics - 1 Jan 2016
Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown N J, Tan T Y, Yap P J J, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N
Abstract excerpt
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. WSS is caused by heterozygous mutations in KMT2A (also known as MLL), a gene encoding a histone methyltransferase. Here,...
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