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Article

The phenotype range of achondrogenesis 1A.

American journal of medical genetics. Part A - 1 Oct 2013

Grigelioniene Giedre, Geiberger Stefan, Papadogiannakis Nikos, Mäkitie Outi, Nishimura Gen, Nordgren Ann, Conner Peter

Abstract excerpt

Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance. ACG1A is caused by mutations in the TRIP11 gene, resulting in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23956106
DOI: 10.1002/ajmg.a.36106

Genes

TRIP11

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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