A case of campomelic dysplasia without sex reversal

Journal of Korean Medical Science

Volumn 26, Issue 1, 2011, Pages 143-145

  Kim, Hyoung Young ^a   Yoon, Chong Hyun ^a   Kim, Gu Hwan ^a   Yoo, Han Wook ^a   Lee, Byong Sop ^a   Kim, Ki Soo ^a   Kim, Ellen Ai Rhan ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

Campomelic dysplasia; SOX9 gene

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

ARTICLE; CAMPOMELIC DYSPLASIA; CASE REPORT; DNA SEQUENCE; FRAMESHIFT MUTATION; GENETICS; HUMAN; INFANT; MALE; RADIOGRAPHY; RESPIRATORY FAILURE; SEX DIFFERENTIATION DISORDER;

CAMPOMELIC DYSPLASIA; DISORDERS OF SEX DEVELOPMENT; FRAMESHIFT MUTATION; HUMANS; INFANT; MALE; RESPIRATORY INSUFFICIENCY; SEQUENCE ANALYSIS, DNA; SOX9 TRANSCRIPTION FACTOR;

EID: 78650762729     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2011.26.1.143     Document Type: Article

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