Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

American Journal of Medical Genetics

Volumn 66, Issue 4, 1996, Pages 478-484

  Kelley, R I ^a   Roessler, E ^a   Hennekam, R C M ^a   Feldman, G L ^a   Kosaki, K ^a   Jones, M C ^a   Palumbos, J C ^a   Muenke, M ^a  

^a KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

cholesterol; holoprosencephaly; RSH Smith Lemli Opitz syndrome; sonic hedgehog

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; SONIC HEDGEHOG PROTEIN;

ARTICLE; CHILD; CHOLESTEROL METABOLISM; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; HOLOPROSENCEPHALY; HUMAN; INFANT; MALFORMATION SYNDROME; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

CELLS, CULTURED; CHILD, PRESCHOOL; CHOLESTEROL; DEHYDROCHOLESTEROLS; FEMALE; FETAL DEATH; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; INFANT, NEWBORN; PROTEINS; SMITH-LEMLI-OPITZ SYNDROME; TRANS-ACTIVATORS;

EID: 0030458446     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q     Document Type: Article

References (37)