Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

Mutations in KAT6A, encoding a member of the MYST family of histone acetyl-transferases, were recently reported in patients with a neurodevelopmental disorder (OMIM: #616268, autosomal dominant mental retardation-32). In this report, we describe three siblings with intellectual disability (ID) or gl...

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Bibliografiska uppgifter
I publikationen:Hum Genome Var
Huvudupphovsmän: Satoh, Chisei, Maekawa, Ryuta, Kinoshita, Akira, Mishima, Hiroyuki, Doi, Michiko, Miyazaki, Mutsuko, Fukuda, Masafumi, Takahashi, Haruo, Kondoh, Tatsuro, Yoshiura, Koh-ichiro
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2017
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6863403/
https://ncbi.nlm.nih.gov/pubmed/31754438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.45
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