Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal

Sexual Development

Volumn 4, Issue 3, 2010, Pages 143-149

  Jakubiczka, S ^a   Schroder C ^b   Ullmann, R ^c   Volleth, M ^a   Ledig, S ^d   Gilberg, E ^e   Kroisel, P ^f   Wieacker, P ^d  

^a UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^b UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d INSTITUTE OF HUMAN GENETICS   (France)

^e Institute of Pathology   (Germany)

^f Inst of Med Biol and Hum Genet   (Austria)

Author keywords

Acampomelic campomelic dysplasia; Deletion; Sex reversal; SOX9; Translocation

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

ARTICLE; CAMPOMELIC DYSPLASIA; CASE REPORT; CHROMOSOME 17; CHROMOSOME 7; FEMALE; GENE DELETION; GENE TRANSLOCATION; GENETICS; HUMAN; KARYOTYPING; MALE; NEWBORN; REPRODUCTION;

CAMPOMELIC DYSPLASIA; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; SEQUENCE DELETION; SEX REVERSAL, GONADAL; SOX9 TRANSCRIPTION FACTOR; TRANSLOCATION, GENETIC;

EID: 77954040599     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000302403     Document Type: Article

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