Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimpl...

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Detalhes bibliográficos
Main Authors: Park, Kyung Eui, Kim, Sung Ah, Kang, Moon Joo, Kim, Hee Sun, Cho, Sung Im, Yoo, Kyoung Won, Kim, So Yeon, Lee, Hye Jun, Oh, Sun Kyung, Seong, Moon-Woo, Ku, Seung-Yup, Jun, Jong Kwan, Park, Sung Sup, Choi, Young Min, Moon, Shin Yong
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Reproductive Medicine 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3630293/
https://ncbi.nlm.nih.gov/pubmed/23614116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5653/cerm.2013.40.1.42
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