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

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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Bibliographic Details
Main Authors: Tingting Lin, Yongyi Ma, Danni Zhou, Liwei Sun, Ke Chen, Yezhou Xiang, Keya Tong, Chaoli Jia, Kean Jiang, Dongyun Liu, Guoning Huang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Genetics
Subjects:
MKS1 gene
Meckel syndrome
PGT-M
intron mutation
exon skipping variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.843931/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.843931/full

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