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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...
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| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5614965/ https://ncbi.nlm.nih.gov/pubmed/29018476 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2017.00130 |
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