A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senée V, Lopes M, Cunha DA, Harding HP, Derbois C, Bendelac N, Hattersley AT, Eizirik DL, Ron D, Cnop M, Julier C.
Abdulkarim B, et al.
Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9.
Diabetes. 2015.
PMID: 26159176
Free PMC article.
Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2alpha phosphorylation [CReP]) encoding the regulatory subunit of an eIF2alpha-specific phosphatase in two siblings affected by a novel syndrome of diabetes of youth wit …
Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2alpha phosphorylation [CReP] …