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Article

[Clinical and genetic features of Schwartz-Jampel syndrome in a Chinese child: case report and literature review].

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

Dai Lifang, Fang Fang, Huang Yu, Cheng Hua, Ren Changhong

Abstract excerpt

OBJECTIVE: To investigate the clinical and genetic features of a Chinese girl with Schwartz-Jampel syndrome (SJS). METHOD: To analyze the clinical and genetic data of a girl with Schwartz-Jampel syndrome who was sent to neurology outpatient department of Beijing Children's Hospital in Auguest of 2010. Reports on Schwartz-Jampel syndrome published until July of 2015 were searched and the clinical and genetic...

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Source

Identifiers

PMID: 26758326

Genes

HSPG2

Variants

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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