Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review

• मुख्य लेखकों: Chih-Ping Chen (लेखक), Yi-Ning Su (लेखक), Tzu-Hung Lin (लेखक), Tung-Yao Chang (लेखक), Jun-Wei Su (लेखक), Wayseen Wang (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2013-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Objective: We describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH. Case report: A 28-year-old primigravid woman was referred for genetic counseling at 30 weeks of gestation because of short-limbed...