Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family

Background: Seckel syndrome (SCKL) is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, and a typical “bird-head” facial appearance. Here, we aimed to identify the genetic etiology of...

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Detalles Bibliográficos
Autores principales: Zhang, Li, Teng, Yanling, Hu, Haoran, Zhu, Huimin, Wen, Juan, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845263/
https://www.ncbi.nlm.nih.gov/pubmed/36685824
http://dx.doi.org/10.3389/fgene.2022.1052915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845263/
https://www.ncbi.nlm.nih.gov/pubmed/36685824
http://dx.doi.org/10.3389/fgene.2022.1052915

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