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Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. Case report: A 28-year-old woman, gravida 1...

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Detaylı Bibliyografya
Asıl Yazarlar: André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2017-08-01
Seri Bilgileri:Taiwanese Journal of Obstetrics & Gynecology
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Online Erişim:http://www.sciencedirect.com/science/article/pii/S1028455917301547
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