Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

Journal of Medical Genetics

Volumn 44, Issue 6, 2007, Pages 381-386

  Jakobsen, Linda P ^a,b   Ullmann, Reinhard ^c   Christensen, Steen B ^a   Jensen, Karl Erik ^a   Mølsted, Kirsten ^d   Henriksen, Karen F ^b   Hansen, Claus ^b   Knudsen, Mary A ^a   Larsen, Lars A ^b   Tommerup, Niels ^b   Türner, Zeynep ^b  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d Copenhagen Cleft Palate Centre ^*  (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

ADOLESCENT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HUMAN; KARYOTYPE; KCNJ2 GENE; MALE; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

ADOLESCENT; BASE PAIRING; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENE EXPRESSION REGULATION; HIGH MOBILITY GROUP PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LYMPHOCYTES; MALE; PIERRE ROBIN SYNDROME; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RNA, MESSENGER; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

BACTERIA (MICROORGANISMS);

EID: 34250765325     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.046177     Document Type: Article

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