Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics

Volumn 91, Issue 2, 2000, Pages 138-140

  Patrono, C ^a   Rizzo, C ^a   Tessa, A ^a   Giannotti, A ^a   Borrelli, P ^a   Carrozzo, R ^a   Piemonte, F ^a   Bertini, E ^a   Dionisi Vici, C ^a   Santorelli, Filippo ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

7 dehydrocholesterol reductase; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; OXIDOREDUCTASE;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; ENZYME DEFICIENCY; FACE MALFORMATION; GENE MUTATION; HUMAN; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ABNORMALITIES, MULTIPLE; ALLELES; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FATHERS; FIBROBLASTS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOTHERS; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0034098984     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000313)91:2<138::AID-AJMG12>3.0.CO;2-Q     Document Type: Article

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