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Article

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A - 1 Aug 2017

Eroglu Yasemen, Nguyen-Driver Mina, Steiner Robert D, Merkens Louise, Merkens Mark, Roullet Jean-Baptiste, Elias Ellen, Sarphare Geeta, Porter Forbes D, Li Chumei, Tierney Elaine, Nowaczyk Małgorzata J, Freeman Kurt A

Abstract excerpt

Children with Smith-Lemli-Opitz syndrome (SLOS) are typically reported to have moderate to severe intellectual disability. This study aims to determine whether normal cognitive function is possible in this population and to describe clinical, biochemical and molecular characteristics of children with SLOS and normal intelligent quotient (IQ). The study included children with SLOS who underwent cognitive testing...

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Identifiers

PMID: 28349652
DOI: 10.1002/ajmg.a.38125
PMCID: PMC6016830

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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