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Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses

Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive inherited disorder. Missed diagnosis might happen in clinical works due to an unclear genotype–phenotype correlation. We analyzed two families visiting our center; the parents are normal; each of the family aborted a fetus at 12WG. Fo...

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Detalles Bibliográficos
Autores principales:	Hong, Zhidan, He, Xuanyi, Yu, Fang, Liu, Huanyu, Zhang, Xiaoli, Zhang, Yuanzhen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2022
Materias:	Maternal Fetal Medicine/Biology: Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9352615/ https://www.ncbi.nlm.nih.gov/pubmed/34981460 http://dx.doi.org/10.1007/s43032-021-00835-5

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