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

• Main Authors: Chih-Ping Chen (Author), Yi-Ning Su (Author), Tzu-Hung Lin (Author), Tung-Yao Chang (Author), Jun-Wei Su (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2013-12-01T00:00:00Z.
• Subjects: article
• Online Access: 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...