Smith-Lemli-Opitz-syndrome.
Indian J Hum Genet
;
2012 May; 18(2): 235-237
Artículo
en Inglés
| IMSEAR
| ID: sea-143278
ABSTRACT
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-dehydrocholesterol reductase. We describe one such child with Smith-Lemli-Opitz syndrome. This child had clinical features similar to Smith-Lemli-Opitz syndrome like facial dysmorphism and cardiac and renal anomalies with failure to thrive.
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Índice:
IMSEAR (Asia Sudoriental)
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2012
Tipo del documento:
Artículo
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