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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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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Dang Do, An N., Baker, Eva H., Warren, Katherine E., Bianconi, Simona E., Porter, Forbes D.
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Accés en línia: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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