TY  - GEN
AU  - Arroyo Carrera, I
PY  - 2007
SN  - 0210–3893
UR  - http://hdl.handle.net/20.500.12105/14029
AB  - The Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital anomaly/mental retardation pattern caused by an inborn error of cholesterol metabolism. Deficient cholesterol synthesis is caused by inherited mutations of...
LA  - spa
PB  - Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
TI  - Síndrome de Smith-Lemli-Opitz
T2  - Smith-Lemli-Opitz syndrome
TY  - research article
ER  -