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Article

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.

Mental retardation and developmental disabilities research reviews - 1 Jan 2000

Tierney E, Nwokoro N A, Kelley R I

Abstract excerpt

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 demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory...

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Identifiers

PMID: 10899806
DOI: 10.1002/1098-2779(2000)6:2<131::AID-MRDD7>3.0.CO;2-R

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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