Analysis of Genetic Factors in a Family With Short Stature.

doi:10.1002/mgg3.70288

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Article

Analysis of Genetic Factors in a Family With Short Stature.

Molecular genetics & genomic medicine - 1 Sept 2026

Zhang Siqing, Zuo Tian, Deng Youping, Zhao Dongchi, Liao Lihong

Abstract excerpt

BACKGROUND: To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals. METHODS: A family with a history of short stature from Zhongnan Hospital of Wuhan University was the subject of this study. Peripheral blood samples were collected from family members for whole exome sequencing and Sanger sequencing to identify genetic anomalies. RESULTS: The male proband, aged 3 years...

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Topics

Humans
Male
Pedigree
Female
Child, Preschool
Mutation, Missense
Collagen Type I

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Human Growth Hormone

Dwarfism

Exome Sequencing

Body Height

Phenotype

Adult

Growth Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 42703044
DOI: 10.1002/mgg3.70288
PMCID: PMC13547969

Genes

COL1A2
GH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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