Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study
PIGN基因的双等位基因变异导致弗林斯综合征、多发性先天性异常-肌张力低下-癫痫综合征和神经系统表型：一项基因型-表型相关性研究
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2022.09.007
Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T; Alt, Kerstin; Böhrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M; Kuhn, Marius; Lemke, Johannes R; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K; Płoski, Rafał; Quarrell, Oliver W; Rosello, Monica; Rydzanicz, Małgorzata; Sabir, Ataf; Śmigiel, Robert; Stegmann, Alexander P A; Stewart, Helen; Stumpel, Constance; Szczepanik, Elżbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha
