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[Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Oct 2024

Han Y P, Wang X M, Chen Y Q

Abstract excerpt

2例患儿因毛发稀少就诊，1例患儿因双手指关节畸形就诊，就诊年龄分别为14岁、10岁3月龄、8岁6月龄，3例患儿均有毛发稀少、梨形鼻、双手指间关节畸形。基因检测结果示例1患儿TRPS1基因存在c.1870C>T和c.1859C>G杂合变异；例2患儿TRPS1基因存在c.877dupC杂合变异；例3患儿TRPS1基因存在c.3208G>T杂合变异。结合患儿临床表现及遗传学检测结果，3例患儿均诊断为毛发-鼻-指（趾）综合征，报道罕见。.

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Identifiers

PMID: 39327968
DOI: 10.3760/cma.j.cn112140-20240321-00195

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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