When should Smith-Lemli-Opitz syndrome be considered? A serie of 45 cases;Circonstances cliniques du diagnostic du syndrome de Smith-Lemli-Opitz et tentatives de corrélation phénotype-génotype: À propos de 45 cas

Archives de Pediatrie

Volumn 10, Issue 1, 2003, Pages 4-10

  Goldenberg, A ^a   Chevy, F ^b   Bernard, C ^c   Wolf, C ^b   Cormier Daire, V ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Infant; Mutations, genetics; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; OXIDOREDUCTASE;

ADOLESCENT; ADULT; ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BIRTH; BIRTH WEIGHT; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; FAILURE TO THRIVE; FEMALE; FETOMATERNAL TRANSFUSION; GENE CONTROL; GENE MUTATION; GENOTYPE; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; LIMB MALFORMATION; MALE; MENTAL DEFICIENCY; MICROCEPHALY; NEWBORN; PHENOTYPE; PRENATAL DIAGNOSIS; PRENATAL PERIOD; SHORT STATURE; SITE DIRECTED MUTAGENESIS; SMITH LEMLI OPITZ SYNDROME;

ADOLESCENT; ADULT; BIRTH WEIGHT; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MICROCEPHALY; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; RETROSPECTIVE STUDIES; SEX FACTORS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 12244253747     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-693X(03)00214-8     Document Type: Article

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