Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformation/intellectual disability syndrome, with clinical characteristics encompassing a wide spectrum and great variability. Elucidation of the biochemical and molecular genetic basis for the autosomal recessively inherited SLOS, specifi...

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Bibliografiske detaljer
Main Authors: DeBarber, Andrea E., Eroglu, Yasemen, Merkens, Louise S., Pappu, Anuradha S., Steiner, Robert D.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3366105/
https://ncbi.nlm.nih.gov/pubmed/21777499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S146239941100189X
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