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Article

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

American journal of medical genetics. Part A - 1 Jun 2011

Parker Michael J, Deshpande Charulata, Rankin Julia, Wilson Louise C, Balasubramanian Meena, Hall Christine M, Wagner Bart E, Pollitt Rebecca, Dalton Ann, Bishop Nicholas J

Abstract excerpt

Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It exhibits a broad spectrum of clinical severity, ranging from multiple fractures in utero and perinatal death, to normal adult stature and low fracture incidence. Extra-skeletal features of OI include blue sclera, hearing loss, skin hyperlaxity,...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I, alpha 1 Chain

Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 21567925
DOI: 10.1002/ajmg.a.33998

Genes

CRTAP
FKBP10
SERPINH1

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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