Article
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.
Birth defects research - 15 Jan 2020
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
Abstract excerpt
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 METHODS: We performed autopsies and DHCR7 gene analyses in eight fetuses suspected of having SLOS and measured...
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