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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

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