A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly

Defective glycosylphosphatidylinositol (GPI)‐anchor biogenesis can cause a spectrum of predominantly neurological problems. For eight genes critical to this biological process, disease associations are not yet reported. Scanning exomes from 7,833 parent–child trios and 1,792 singletons from the DDD...

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Detalles Bibliográficos
Publicado en:Hum Mutat
Autores principales: Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6001798/
https://ncbi.nlm.nih.gov/pubmed/29573052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23420
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