Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

Autosomal-recessive cutis laxa type 2 (ARCL2) is a multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin, joint laxity, and a general developmental delay. Cutis laxa includes a family of clinically overlapping conditions with confusing nomenclature, generally...

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Hlavní autoři: Guernsey, Duane L., Jiang, Haiyan, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Nightingale, Mathew, Rideout, Andrea L., Provost, Sylvie, Bedard, Karen, Orr, Andrew, Dubé, Marie-Pierre, Ludman, Mark, Samuels, Mark E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2706970/
https://ncbi.nlm.nih.gov/pubmed/19576563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.06.008
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