Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 2997-3001

  Okamoto, Nobuhiko ^a   Tamura, Daisuke ^a   Nishimura, Gen ^b   Shimojima, Keiko ^c   Yamamoto, Toshiyuki ^c  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Array CGH; HOX; HOXC; Kyphoscoliosis; Multiple synostosis syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CAMPTODACTYLY; CASE REPORT; CHROMOSOME ABERRATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; DEVELOPMENTAL GENETICS; GENE; GENE CLUSTER; GENE DELETION; HAPLOINSUFFICIENCY; HEART DISEASE; HOXC GENE; HUMAN; JOINT SWELLING; KYPHOSCOLIOSIS; KYPHOSIS; LANGUAGE DISABILITY; MALE; METACARPAL BONE FRACTURE; MOTOR DEVELOPMENT; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROMINENT EAR; RADIUS HEAD FRACTURE; SCOLIOSIS; SKELETON MALFORMATION; SKELETON RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; KYPHOSIS; MALE; MULTIGENE FAMILY; PHENOTYPE; SCOLIOSIS;

EID: 81955167350     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34324     Document Type: Article

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