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Article

[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jan 2015

Wang Wei, Song Hongmei, Wei Min, Qiu Zhengqing, Wang Chen, Zhang Yu, Li Ming, Yuan Yuheng, Tang Xiaoyan

Abstract excerpt

OBJECTIVE: Schimke immuno-osseous dysplasia (SIOD), is an autosomal recessive inherited disease caused by SMARCAL1 (MIM:20606622) mutations, while in about half of the patients no any mutation in SMARCAL1 could be found. This disease involves multiple systems and is characterized by short and dissymmetric stature with spondyloepiphyseal dysplasia, progressive renal failure, lymphopenia with recurrent infections,...

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Source

Identifiers

PMID: 25748404

Genes

SMARCAL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].PMID 25748404Read ↗

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