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Corpus Callosum Measurements Correlate with Developmental Delay in Smith-Lemli-Opitz Syndrome

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation, neurodevelopmental disorder of cholesterol metabolism caused by mutations in 7-dehydrocholesterol reductase (DHCR7). Corpus callosum (CC) malformations and developmental delay are common manifestations of this disorder, but th...

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Autori principali: Lee, Ryan W.Y., Yoshida, Shoko, Jung, Eun Sol, Mori, Susumu, Baker, Eva H., Porter, Forbes D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3718481/
https://ncbi.nlm.nih.gov/pubmed/23859856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2013.03.015
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