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

Abstract

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… (More)
DOI: 10.1016/j.ajpath.2015.03.022

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Cite this paper

@article{Park2015HomozygosityAH, title={Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.}, author={Arick C Park and Charlotte L. Phillips and Ferris Michael Pfeiffer and Drew Allan Roenneburg and John F Kernien and Sheila M. Adams and Jeffrey Davidson and David E. Birk and Daniel S. Greenspan}, journal={The American journal of pathology}, year={2015}, volume={185 7}, pages={2000-11} }