The SPRED1 Variants Repository for Legius Syndrome

Legius syndrome (LS) is an autosomal dominant disorder caused by germline loss-of-function mutations in the sprouty-related, EVH1 domain containing 1 (SPRED1) gene. The phenotype of LS is multiple café au lait macules (CALM) with other commonly reported manifestations, including intertriginous freck...

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Detalles Bibliográficos
Autores principales: Sumner, Kelli, Crockett, David K., Muram, Talia, Mallempati, Kalyan, Best, Hunter, Mao, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2011
Materias:
Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276167/
https://www.ncbi.nlm.nih.gov/pubmed/22384355
http://dx.doi.org/10.1534/g3.111.000687

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276167/
https://www.ncbi.nlm.nih.gov/pubmed/22384355
http://dx.doi.org/10.1534/g3.111.000687

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