TY  - GEN
AU  - Coman,David
AU  - Vissers,Lisenka E L M
AU  - Riley,Lisa G
AU  - Kwint,Michael P
AU  - Hauck,Roxanna
AU  - Koster,Janet
AU  - Geuer,Sinje
AU  - Hopkins,Sarah
AU  - Hallinan,Barbra
AU  - Sweetman,Larry
AU  - Engelke,Udo F H
AU  - Burrow,T Andrew
AU  - Cardinal,John
AU  - McGill,James
AU  - Inwood,Anita
AU  - Gurnsey,Christine
AU  - Waterham,Hans R
AU  - Christodoulou,John
AU  - Wevers,Ron A
AU  - Pitt,James
TI  - Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
SN  - 1537-6605
PY  - 2019///0514
KW  - Child
KW  - Child, Preschool
KW  - Cholesterol
KW  - genetics
KW  - Enhancer Elements, Genetic
KW  - Farnesyl-Diphosphate Farnesyltransferase
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Musculoskeletal Abnormalities
KW  - Promoter Regions, Genetic
KW  - RNA Splicing
KW  - Smith-Lemli-Opitz Syndrome
KW  - Exome Sequencing
KW  - methods
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2018.05.004
ER  -