Jayamanne, C.; Sandamal, S.; Jayasundara, K.; Saranavananthan, M.; Mettananda, S.
(BioMed Central, 2018)
BACKGROUND: Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case ...