A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1

Journal of Medical Genetics

Volumn 47, Issue 9, 2010, Pages 638-639

  Cho, Tae Joon ^a   Kim, Ok Hwa ^b   Choi, In Ho ^a   Nishimura, Gen ^c   Superti Furga, Andrea ^d   Kim, Kang Suhp ^a   Lee, Young Ju ^a   Park, Woong Yang ^a  

^a Seoul National University College of Medicine   (South Korea)

^b Ajou University Medical Center   (South Korea)

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

^d UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME DUPLICATION; DNA DETERMINATION; FAMILIAL DISEASE; GENE CLUSTER; GENE SEGREGATION; GENETIC VARIABILITY; GENOME ANALYSIS; HOMEOBOX; HOXD GENE; HUMAN; MALE; MESOMELIC DYSPLASIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; BASE PAIRING; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 2; FAMILY; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MIDDLE AGED; MULTIGENE FAMILY; OSTEOCHONDRODYSPLASIAS; PEDIGREE;

EID: 77956112954     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.074690     Document Type: Article

References (10)

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