Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

American Journal of Human Genetics

Volumn 76, Issue 4, 2005, Pages 652-662

  Velagaleti, Gopalrao V N ^a   Bien Willner, Gabriel A ^b   Northup, Jill K ^a   Lockhart, Lillian H ^a   Hawkins, Judy C ^a   Jalal, Syed M ^d   Withers, Marjorie ^b   Lupski, James R ^b,c   Stankiewicz, Pawel ^b  

^a University of Texas Medical Branch School of Medicine   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Texas Children's Hospital   (United States)

^d MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

ADOLESCENT; ANAMNESIS; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CAMPOMELIC DYSPLASIA; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DNA FLANKING REGION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; KARYOTYPE 46,XY; PIERRE ROBIN SYNDROME; POSITION EFFECT; PRESCHOOL CHILD; PRIORITY JOURNAL; SEX TRANSFORMATION; SKELETON MALFORMATION;

EID: 15944402131     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/429252     Document Type: Article

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