Clinical and biochemical spectrum of patients with rsh/smith-lemli-opitz syndrome and abnormal cholesterol metabolism

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 263-269

  Cunniff, Christopher ^a   Kratz, Lisa E ^a   Moser, Ann ^a   Natowicz, Marvin R ^a   Kelley, Richard I ^a  

^a KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

7 dehydrocholesterol; Autosomal recessive inheritance; Cholesterol metabolism; Inborn error of metabolism; Rsh smith lemli opitz syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; SYNDACTYLY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; DEHYDROCHOLESTEROLS; FEMALE; HUMANS; INFANT; MALE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0031044525     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970131)68:3<263::aid-ajmg4>3.0.co;2-n     Document Type: Article

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