Three new patients with FATCO: fibular agenesis with ectrodactyly.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2012)

引用 22|浏览17
暂无评分
摘要
We document three new patients with fibular agenesis, tibial campomelia, and oligosyndactyly (FATCO). Two of these individuals had tetramelic manifestations while the third had bilateral abnormalities of the lower limbs. These patients and others reported as FATCO seem to belong to the phenotype fibular aplasia with ectrodactyly. Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show any genetic abnormalities. (C) 2012 Wiley Periodicals, Inc.
更多
查看译文
关键词
FATCO,fibular agenesis with ectrodactyly,split hand-foot malformation (SHFM)
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要