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Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Dang Do, An N., Baker, Eva H., Warren, Katherine E., Bianconi, Simona E., Porter, Forbes D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6309987/
https://ncbi.nlm.nih.gov/pubmed/29226552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38563
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