Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses

Autor: Yuxin Zhang, Lulu Yan, Min Xie, Jiangyang Xue, Xumian Yang, Yongming Xue, Liyun Tian, Haibo Li
Rok vydání: 2023
Předmět:
Zdroj: American Journal of Medical Genetics Part A.
ISSN: 1552-4833
1552-4825
Databáze: OpenAIRE