Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review
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...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2013-12-01
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| Serie: | Taiwanese Journal of Obstetrics & Gynecology |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S1028455913001861 |
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