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Case Report: Wiedemann-Steiner syndrome with a new frameshift mutation in KMT2A
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  • Jun He,
  • Aimin Deng,
  • Ying chen,
  • Shuyuan Yan,
  • yanling wang,
  • Tuanmei Wang,
  • Xiangwen Peng
Jun He
Hunan Normal University
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Aimin Deng
Hunan Normal University
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Ying chen
Hunan Normal University
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Shuyuan Yan
Hunan Normal University
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yanling wang
Hunan Normal University
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Tuanmei Wang
Hunan Normal University
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Xiangwen Peng
Hunan Normal University

Corresponding Author:[email protected]

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Abstract

Here we report a 5 year old girl with a new frameshift mutation (c.2318dup:p.S774Vfs*12) in the KMT2A gene.The patient’s clinical manifestations: postnatal growth retardation, early teething, rapid tooth replacement,dysplasia of dentition; wide eye spacing; generalized hirsutism; stubby fingers; low muscle tension and retarded mental development.