A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
特定的CNOT1基因突变会导致一种新的综合征,该综合征通过损害胰腺和神经发育而表现为胰腺发育不全和前脑无裂畸形。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.03.018
De Franco, Elisa; Watson, Rachel A; Weninger, Wolfgang J; Wong, Chi C; Flanagan, Sarah E; Caswell, Richard; Green, Angela; Tudor, Catherine; Lelliott, Christopher J; Geyer, Stefan H; Maurer-Gesek, Barbara; Reissig, Lukas F; Lango Allen, Hana; Caliebe, Almuth; Siebert, Reiner; Holterhus, Paul Martin; Deeb, Asma; Prin, Fabrice; Hilbrands, Robert; Heimberg, Harry; Ellard, Sian; Hattersley, Andrew T; Barroso, Inês