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CEP55-associated lethal fetal syndrome: a case report of a Chinese family

Background: Research on fetal loss related to germline mutations in single genes remains limited. Disruption of CEP55 has recently been established in association with perinatal deaths characterized by hydranencephaly, renal dysplasia, oligohydramnios, and characteristic dysmorphisms. We herein pres...

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Detalles Bibliográficos
Autores principales: Wang, Yeping, Sheng, Fang, Ying, Lingjing, Lou, Qiaoli, Yu, Zhaonan, Wang, Kaixuan, Wang, Haoyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623345/
https://www.ncbi.nlm.nih.gov/pubmed/37928238
http://dx.doi.org/10.3389/fgene.2023.1267241