Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata

European Journal of Medical Genetics

Volumn 50, Issue 5, 2007, Pages 392-398

  Hellenbroich, Yorck ^a   Grzeschik, Karl Heinz ^b   Krapp, Martin ^a   Jarutat, Tiantom ^a   Lehrmann Petersen, Christa ^c   Buiting, Karin ^d   Gillessen Kaesbach, Gabriele ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c Praxis für Gynäkologie und Geburtshilfe ^*  (Germany)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

CDPX2; Chondrodysplasia punctata; EBP; Intrafamilial phenotypic variability; Reduced penetrance; X inactivation

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; 3BETA HYDROXYSTEROID DELTA8,DELTA7 ISOMERASE; EMOPAMIL; UNCLASSIFIED DRUG;

ARTICLE; AUTOPSY; CHONDRODYSPLASIA PUNCTATA; EBP GENE; FEMALE; FETUS; GENE; HUMAN; HUMAN TISSUE; PENETRANCE; X CHROMOSOME DOMINANT INHERITANCE;

ADULT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; FEMALE; GENES, DOMINANT; GENETIC DISEASES, X-LINKED; HUMANS; PENETRANCE; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; STEROID ISOMERASES; X CHROMOSOME INACTIVATION;

EID: 34548849457     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.05.004     Document Type: Article

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