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)
Kyung Eui Park, Sung Ah Kim, Moon Joo Kang, Hee Sun Kim, Sung Im Cho, Kyoung Won Yoo, So Yeon Kim, Hye Jun Lee, Sun Kyung Oh, Moon-Woo Seong, Seung-Yup Ku, Jong Kwan Jun, Sung Sup Park, Young Min Choi, Shin Yong Moon
Clin Exp Reprod Med. 2013;40(1):42-46.   Published online 2013 Mar 31     DOI:
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Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review
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Taiwanese Journal of Obstetrics and Gynecology.2013; 52(4): 580.     CrossRef