Adult phenotype and further phenotypic variability in SRD5A3-CDG

BACKGROUND: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating. CASE PRESENTATION: We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cereb...

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Detalles Bibliográficos
Autores principales: Kara, Bülent, Ayhan, Özgecan, Gökçay, Gülden, Başboğaoğlu, Nurdan, Tolun, Aslıhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898029/
https://www.ncbi.nlm.nih.gov/pubmed/24433453
http://dx.doi.org/10.1186/1471-2350-15-10

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