Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1

Meckel syndrome (MKS), also known as the Meckel–Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of the primary cilia during early embryogenesis. The diagnostic criteria are based on clinical variability and genetic heterogeneity. Mutations in...

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Detalles Bibliográficos
Autores principales: Lin, Tingting, Ma, Yongyi, Zhou, Danni, Sun, Liwei, Chen, Ke, Xiang, Yezhou, Tong, Keya, Jia, Chaoli, Jiang, Kean, Liu, Dongyun, Huang, Guoning
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/PMC8963843/
https://www.ncbi.nlm.nih.gov/pubmed/35360848
http://dx.doi.org/10.3389/fgene.2022.843931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8963843/
https://www.ncbi.nlm.nih.gov/pubmed/35360848
http://dx.doi.org/10.3389/fgene.2022.843931

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