Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4

American Journal of Human Genetics

Volumn 87, Issue 1, 2010, Pages 154-160

  Alvarado, David M ^a   Aferol, Hyuliya ^a   McCall, Kevin ^a   Huang, Jason B ^a   Techy, Matthew ^a   Buchan, Jillian ^a   Cady, Janet ^a   Gonzales, Patrick R ^a   Dobbs, Matthew B ^a,b   Gurnett, Christina A ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME 17Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLUBFOOT; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; FEMALE; GENE; HIP DYSPLASIA; HUMAN; LIMB DEVELOPMENT; MALE; PRIORITY JOURNAL; SHORT STATURE; SKELETON MALFORMATION; TBX4 GENE; CHROMOSOME 17; GENE DUPLICATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUSCULOSKELETAL SYSTEM MALFORMATION; PEDIGREE; PENETRANCE; PRESCHOOL CHILD;

T BOX TRANSCRIPTION FACTOR; TBX4 PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; CLUBFOOT; FEMALE; GENE DUPLICATION; HUMANS; MALE; MUSCULOSKELETAL ABNORMALITIES; PEDIGREE; PENETRANCE; T-BOX DOMAIN PROTEINS;

EID: 77955075604     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.06.010     Document Type: Article

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