Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome

Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in regulating cilia formation and function. Mutations in...

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Detalles Bibliográficos
Autores principales: Moreno-Leon, Laura, Quezada-Ramirez, Marco A., Bilsbury, Evan, Kiss, Courtney, Guerin, Andrea, Khanna, Hemant
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437271/
https://www.ncbi.nlm.nih.gov/pubmed/36061204
http://dx.doi.org/10.3389/fgene.2022.982127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437271/
https://www.ncbi.nlm.nih.gov/pubmed/36061204
http://dx.doi.org/10.3389/fgene.2022.982127

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