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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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Bibliographische Detailangaben
Veröffentlicht in:Am J Med Genet A
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2017
Schlagworte:
Online Zugang: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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