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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

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