Associated Papers
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
Tamura M et al.
Human Genome Variation, 2017
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Quélin C et al.
European Journal of Medical Genetics, 2012
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