Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus

OBJECTIVE: We presented a non-consanguineous healthy Chinese couple with five pregnancies, three early miscarriages, the fetus II-2 and II-5 with similar abnormal phenotypes of fetal hydrops, scoliosis, fetal akinesia and polyhydramnios. This study aimed to uncover the molecular etiology of this fam...

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Detalles Bibliográficos
Autores principales: Zhao, Qiuling, Li, Xiaoduo, Liu, Li, Zhang, Xu, Pan, Xin, Yao, Hong, Ma, Yongyi, Tan, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490926/
https://www.ncbi.nlm.nih.gov/pubmed/36131268
http://dx.doi.org/10.1186/s12920-022-01358-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490926/
https://www.ncbi.nlm.nih.gov/pubmed/36131268
http://dx.doi.org/10.1186/s12920-022-01358-x

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