Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: Lack of genotype/phenotype correlations

Human Molecular Genetics

Volumn 6, Issue 1, 1997, Pages 91-98

  Meyer, Jobst ^a   Südbeck, Peter ^a   Held, Marika ^a   Wagner, Thomas ^a,n   Schmitz, M Lienhard ^a   Dagna Bricarelli, Franca ^b   Eggermont, Ephrem ^c   Friedrich, Ursula ^d   Haas, Oskar A ^e   Kobelt, Albrecht ^f   Leroy, Jules G ^g   Van Maldergem, Lionel ^h   Michel, Erik ⁱ   Mitulla, Beate ^j   Pfeiffer, Rudolf A ^k   Schinzel, Albert ^l   Schmidt, Heinrich ^m   Scherer, Gerd ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b GALLIERA HOSPITAL   (Italy)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d AARHUS UNIVERSITY   (Denmark)

^e ST ANNA CHILDREN S HOSPITAL   (Austria)

^f Abteilung für Klinische Genetik   (Germany)

^g GHENT UNIVERSITY HOSPITAL   (Belgium)

^h INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

ⁱ VIVANTES KLINIKUM NEUKÖLLN   (Germany)

^j Klinikum Suhl   (Germany)

^k UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^l UNIVERSITY OF ZURICH   (Switzerland)

^m UNIVERSITY OF MUNICH   (Germany)

ⁿ IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHONDRODYSPLASIA; CLINICAL ARTICLE; DNA BINDING; FEMALE; FRAMESHIFT MUTATION; GENETIC TRANSFECTION; GENOTYPE; GONADAL DYSGENESIS; HUMAN; INFANT; MALE; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEX TRANSFORMATION;

EID: 8044219672     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.1.91     Document Type: Article

References (31)

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