A novel ABCC6 variant causative of pseudoxanthoma elasticum

Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 revealed a novel homozygous c.4041G > A variant located in the...

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Vydáno v:Hum Genome Var
Hlavní autoři: Contrò, Gianluca, Tallerico, Rossana, Dattilo, Vincenzo, Fabiani, Fernanda, Enzo, Maria Vittoria, Hladnik, Uros, Dastoli, Stefano, Nisticò, Steven Paul, Colao, Emma, Perrotti, Nicola, Iuliano, Rodolfo
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2019
Témata:
Data Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586818/
https://ncbi.nlm.nih.gov/pubmed/31240106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0062-x
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