一例由该基因新的杂合性无义突变引起的毛发鼻指综合征病例。
A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the Gene.
作者信息
E Cailing, Ahmed Maaz, Wang Yu, Wang Jing, Wu Shixing, Meng Zudong
机构信息
Department of Dermatology Renmin Hospital, Hubei University of Medicine Shiyan Hubei People's Republic of China.
出版信息
Clin Case Rep. 2025 Jul 31;13(8):e70695. doi: 10.1002/ccr3.70695. eCollection 2025 Aug.
Abstract
A 17-year-old male patient with a c.2065C>T heterozygous nonsense mutation in the gene has sparse, soft hair; short thumbs and toes; misaligned teeth; and X-ray findings of short distal thumb phalanges, depressed middle finger phalanges bases, and short toe proximal phalanges.
摘要
一名17岁男性患者，该基因存在c.2065C>T杂合无义突变，其头发稀疏、柔软；拇指和脚趾短小；牙齿排列不齐；X线检查发现拇指远节指骨短小、中指指骨基底凹陷以及脚趾近节指骨短小。
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