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Prenatal death in Smith–Lemli–Opitz/RSH syndrome

✍ Scribed by Angelica R. Putnam; Juliana G. Szakacs; John M. Opitz; Janice L.B. Byrne

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
411 KB
Volume
138A
Category
Article
ISSN
1552-4825

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Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstra