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smith-lemli-opitz
síndrome de smith - lemli - opitz (trastorno)

smith lemli opitz syndrome
síndrome de smith - lemli - opitz

smith-lemli-opitz syndrome i
síndrome de smith - lemli - opitz (trastorno)

rsh/smith-lemli-opitz syndrome
síndrome de smith - lemli - opitz (trastorno)

smith-lemli-opitz syndrome (diagnosis)
síndrome de smith - lemli - opitz (trastorno)

rsh/smith-lemli-opitz (rsh/slo) syndrome
síndrome de smith - lemli - opitz (trastorno)

smith-lemli-opitz (slo) syndrome i (slos i)
síndrome de smith - lemli - opitz (trastorno)

the dhcr7 gene is located on chromosome 11q13.4 and is composed of 9 exons that generate two alternatively spliced mrnas, both of which encode the same 475 amino acid protein. deficiency in dhcr7 (due to gene mutations) results in the disorder called smith-lemli-opitz syndrome, slos. slos is characterized by increased levels of 7-dehydrocholesterol and reduced levels (15% to 27% of normal) of cholesterol resulting in multiple developmental malformations and behavioral problems.
la deficiencia en dhcr7 (debido a las mutaciones del gen) resultados en el trastorno conocido como síndrome de smith-lemli-opitz, slos. slos es caracterizada por niveles elevados de 7-dehidrocolesterol y reducción de los niveles (15% al 27% de lo normal) de colesterol que resulta en múltiples malformaciones del desarrollo y del comportamiento los problemas.