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...

Descripción completa

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

Internet

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

Ejemplares similares