Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cas...

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Autori principali: Ryan, A K, Bartlett, K, Clayton, P, Eaton, S, Mills, L, Donnai, D, Winter, R M, Burn, J
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1998
Soggetti:
Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051366/
https://ncbi.nlm.nih.gov/pubmed/9678700
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