Congenital hypotonia: systematic approach for prenatal detection.
Weissbach T, Hausman-Kedem M, Yanay Z, Meyer R, Bar-Yosef O, Leibovitch L, Berkenstadt M, Chorin O, Shani H, Massarwa A, Achiron R, Weisz B, Sharon R, Mazaki-Tovi S, Kassif E.
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Liu X, Meng J, Ma J, Shu J, Gu C, Chen X, Li D, Cai C.