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 |
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Rok vydání: | 2023 |
Předmět: | |
Zdroj: | American Journal of Medical Genetics Part A. |
ISSN: | 1552-4833 1552-4825 |
Databáze: | OpenAIRE |
Externí odkaz: |