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Normal IQ is possible in Smith-Lemli-Opitz syndrome

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 wit...

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Détails bibliographiques
Publié dans:Am J Med Genet A
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6016830/
https://ncbi.nlm.nih.gov/pubmed/28349652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38125
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