Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations

@article{Miyake2016DelineationOC,
  title={Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations},
  author={Noriko Miyake and Yoshinori Tsurusaki and Eriko Koshimizu and Nobuhiko Okamoto and Tomoki Kosho and Natasha J. Brown and Tiong Yang Tan and Patrick Yap and Hiroshi Suzumura and T. Tanaka and Toshiro Nagai and Mitsuko Nakashima and Hirotomo Saitsu and Norio Niikawa and Naomichi Matsumoto},
  journal={Clinical Genetics},
  year={2016},
  volume={89}
}
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, we identify six novel KMT2A mutations in six WSS patients, with four mutations… 

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