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Article

Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.

The American journal of pathology - 1 Jul 2015

Park Arick C, Phillips Charlotte L, Pfeiffer Ferris M, Roenneburg Drew A, Kernien John F, Adams Sheila M, Davidson Jeffrey M, Birk David E, Greenspan Daniel S

Abstract excerpt

Null alleles for the COL5A1 gene and missense mutations for COL5A1 or the COL5A2 gene underlie cases of classic Ehlers-Danlos syndrome, characterized by fragile, hyperextensible skin and hypermobile joints. However, no classic Ehlers-Danlos syndrome case has yet been associated with COL5A2 null alleles, and phenotypes that might result from such alleles are unknown. We describe mice with null alleles for the...

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Identifiers

PMID: 25987251
DOI: 10.1016/j.ajpath.2015.03.022
PMCID: PMC4483463

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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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