A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia
隐性 PRDM13 突变导致先天性促性腺激素功能低下症和小脑发育不全
期刊:Journal of Clinical Investigation
影响因子:13.3
doi:10.1172/JCI141587
Danielle E Whittaker, Roberto Oleari, Louise C Gregory, Polona Le Quesne-Stabej, Hywel J Williams; GOSgene; John G Torpiano, Nancy Formosa, Mario J Cachia, Daniel Field, Antonella Lettieri, Louise A Ocaka, Alyssa Jj Paganoni, Sakina H Rajabali, Kimberley Lh Riegman, Lisa B De Martini, Taro Chaya, Ia