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Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review.

Junling FuYiting ZhaoTong WangQian ZhangXinhua Xiao
Published in: BMC medical genetics (2019)
We reported a new case of AN caused by a heterozygous mutation (c.1949A > C, p.K650 T) in FGFR3, and review the past reports of AN with the same gene mutation. Sequencing of the FGFR3 gene is a feasible approach to identify the aetiology of AN, especially for early onset extensive AN.
Keyphrases
  • early onset
  • late onset
  • single cell
  • emergency department
  • gene expression