Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
病例报告:一种新的PHOX2B p.Ala248_Ala266dup变异导致先天性中枢性低通气综合征
期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2022.1070303
Artamonova, Irina N; Zlotina, Anna M; Ismagilova, Olga R; Levko, Tatyana A; Kolbina, Natalia Yu; Bryzzhin, Aleksandr V; Smorodin, Andrey P; Borodin, Alexandr V; Mamaeva, Ekaterina A; Sukhotskaya, Anna A; Kagantsov, Ilya M; Malysheva, Daria A; Vasichkina, Elena S; Pervunina, Tatiana M; Petrova, Natalia A