A female case with novel kdm5c heterozygous variation presenting with claes-jensen type-like phonotype

HIGHLIGHTS

• who: Ruiyun Shen from the (UNIVERSITY) have published the Article: A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype, in the Journal: (JOURNAL)
• what: The authors report a novel de novo variant (c.3533C > A, p.S1178X), a nonsense_mutation of the KDM5C gene, identified in a 4-year-old girl who presented with global developmental delay, serious expressive language delay, short stature, and mild facial particularities. This is the first report of a female with a de novo nonsense_mutation at the C-terminal nonfunctional domain of KDM5C, which appeared . . .
  

   

  

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