De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

A series of simplex cases have been reported under various diagnoses sharing early aging, especially evident in congenitally decreased subcutaneous fat tissue and sparse hair, bone dysplasia of the skull and fingers, a distinctive facial gestalt, and prenatal and postnatal growth retardation. For hi...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Writzl, Karin, Maver, Ales, Kovačič, Lidija, Martinez-Valero, Paula, Contreras, Laura, Satrustegui, Jorgina, Castori, Marco, Faivre, Laurence, Lapunzina, Pablo, van Kuilenburg, André B.P., Radović, Slobodanka, Thauvin-Robinet, Christel, Peterlin, Borut, del Arco, Araceli, Hennekam, Raoul C.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673633/
https://ncbi.nlm.nih.gov/pubmed/29100094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.09.017
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