Clinical and molecular characterization of 12 prenatal cases of Cri‐du‐chat syndrome

BACKGROUND: This study aimed to define the molecular basis for 12 prenatal cases of Cri‐du‐chat syndrome (CdCS) and the potential genotyping‐phenotyping association. METHODS: Karyotyping and single nucleotide polymorphism array analyses for copy number variants were performed. RESULTS: Nine cases ha...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Peng, Ying, Pang, Jialun, Hu, Jiancheng, Jia, Zhengjun, Xi, Hui, Ma, Na, Yang, Shuting, Liu, Jing, Huang, Xiaoliang, Tang, Chengyuan, Wang, Hua
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434726/
https://ncbi.nlm.nih.gov/pubmed/32500674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1312
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