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PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly

Primary microcephaly (PM) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci identified to date. We report a consanguineous family with PM, intellectual disability and short stature. Using whole exome sequencing, we identified a homozygous frameshift var...

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Bibliografski detalji
Izdano u:Clin Genet
Glavni autori: Khan, Amjad, Alaamery, Manal, Massadeh, Salam, Obaid, Abdulrahman, Kashgari, Amna A., Walsh, Christopher A., Eyaid, Wafaa
Format: Artigo
Jezik:Inglês
Izdano: 2020
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8061709/
https://ncbi.nlm.nih.gov/pubmed/32286682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13756
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