De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.
Waye
John S
JS
1Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada. waye@hhsc.ca
Eng
Barry
B
Potter
Murray A
MA
Nowaczyk
Małgorzata J M
MJ
McFadden
Deborah
D
Langlois
Sylvie
S
D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D011247:Pregnancy; D019082:Smith-Lemli-Opitz Syndrome / Q000196:embryology / Q000235:genetics*
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase