Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

BACKGROUND: Autosomal‐recessive SLOS is caused by mutations in the DHCR7 gene. It is defined as a highly variable complex of microcephaly with intellectual disability, characteristic facies, hypospadias, and polysyndactyly. Syndrome diagnosis is often missed at prenatal ultrasound and fetal autopsy...

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Détails bibliographiques
Publié dans:Birth Defects Res
Auteurs principaux: Schoner, Katharina, Witsch‐Baumgartner, Martina, Behunova, Jana, Petrovic, Robert, Bald, Rainer, Kircher, Susanne G., Ramaswamy, Annette, Kluge, Britta, Meyer‐Wittkopf, Matthias, Schmitz, Ralf, Fritz, Barbara, Zschocke, Johannes, Laccone, Franco, Rehder, Helga
Format: Artigo
Langue:Inglês
Publié: John Wiley & Sons, Inc. 2019
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7432161/
https://ncbi.nlm.nih.gov/pubmed/31840946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdr2.1620
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