Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patient’s microcephaly, severe psychomotor retardatio...

Descripción completa

Detalles Bibliográficos
Autores principales: Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614965/
https://www.ncbi.nlm.nih.gov/pubmed/29018476
http://dx.doi.org/10.3389/fgene.2017.00130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614965/
https://www.ncbi.nlm.nih.gov/pubmed/29018476
http://dx.doi.org/10.3389/fgene.2017.00130

Ejemplares similares