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Article

[Cartilage hair hypoplasia with severe combined immunodeficiency caused by a novel RMRP gene variant].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2021

Luo Y, Wang L L, Yang Z, Wang X D, Cao K, Wu Q, Xia Y, He T Y, Weng R H, Ling J Y, Luo S L, Yang J

Abstract excerpt

1例合并重症联合免疫缺陷表现的软骨毛发发育不全患儿，临床主要表现为短肢矮小，干骺端发育不良，重症联合免疫缺陷以及骨髓造血衰竭。基因分析显示患儿RMRP基因存在新的复合杂合变异。该变异导致RMRP基因mRNA表达水平下降，可能引起细胞周期调控异常和端粒功能障碍。.

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Source

Identifiers

PMID: 34856671
DOI: 10.3760/cma.j.cn112140-20210322-00245

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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