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Smith-Lemli-Opitz-syndrome

Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydroc...

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Detalles Bibliográficos
Autores principales:	Gedam, Rachana, Shah, Ira, Ali, Uma, Ohri, Alpana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491301/ https://www.ncbi.nlm.nih.gov/pubmed/23162303 http://dx.doi.org/10.4103/0971-6866.100779

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