Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report.
Rakheja
Dinesh
D
Cimo
Michael L
ML
Ramus
Ronald M
RM
Rogers
Beverly B
BB
Bennett
Michael J
MJ
Boyer
Philip J
PJ
Galindo
Rene L
RL
D000015:Abnormalities, Multiple / Q000209:etiology* / Q000378:metabolism*; D002490:Central Nervous System / Q000002:abnormalities; D002784:Cholesterol / Q000096:biosynthesis* / Q000097:blood; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D008099:Liver / Q000378:metabolism; D017689:Polydactyly / Q000473:pathology*; D006831:Polyhydramnios / Q000473:pathology; D011247:Pregnancy; D011256:Pregnancy Outcome; D013261:Sterols / Q000378:metabolism; D013577:Syndrome
D013261:Sterols; D002784:Cholesterol