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Article

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.

Journal of human genetics - 1 Dec 2015

Zhang Huiwen, Yang Rui, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuefan

Abstract excerpt

Molecular diagnosis of genetic bone dysplasia is challenging for non-expert. A targeted next-generation sequencing technology was applied to identify the underlying molecular mechanism of bone dysplasia and evaluate the contribution of these genes to patients with bone dysplasia encountered in pediatric endocrinology. A group of unrelated patients (n=82), characterized by short stature, dysmorphology and X-ray...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26377240
DOI: 10.1038/jhg.2015.112

Genes

COMP
PHEX
ENPP1
FBN1
FGFR3
MATN3
SMARCAL1
TRAPPC2
TRPS1
TRPV4

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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