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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Sparad:
Bibliografiska uppgifter
I publikationen:Hum Mutat
Huvudupphovsmän: Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2018
Ämnen:
Brief Reports
Länkar: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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