TY  - CHAP
M1  - Book, Section
TI  - Smith-Lemli-Opitz Syndrome
A1  - Hay, Jr, William W.
A1  - Levin, Myron J.
A1  - Deterding, Robin R.
A1  - Abzug, Mark J.
PY  - 2017
T2  - Quick Medical Diagnosis & Treatment Pediatrics
AB  - Elevated  7-  and  8-dehydrocholesterol  in  serum  is  diagnostic  in  Smith-Lemli-Opitz  (SLO)  syndrome,  which  presents  with  developmental  delay  and  malformationsChondrodysplasia  punctata,  skin  defects,  and  neurologic  symptoms  can  indicate  other  cholesterol  synthetic  defectsAn  autosomal  recessive  disorder  caused  by  a  deficiency  of  the  enzyme  7-dehydrocholesterol  Δ7-reductase  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1145458708
ER  -