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Article

Molecular genetic analysis and growth hormone response in patients with syndromic short stature.

BMC medical genomics - 5 Nov 2021

Sun Huihui, Li Na, Wan Naijun

Abstract excerpt

BACKGROUND: Syndromic short stature is a genetic and phenotypic heterogeneous disorder with multiple causes. This study aims to identify genetic causes in patients with syndromic short stature of unknown cause and evaluate the efficacy of the growth hormone response. METHODS: Trio-whole-exome sequencing was applied to identify pathogenic gene mutations in seven patents with short stature, multiple malformations,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Limb Deformities, Congenital

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

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Identifiers

PMID: 34740356
DOI: 10.1186/s12920-021-01113-8
PMCID: PMC8570008

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