A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family

Journal of Medical Genetics

Volumn 48, Issue 5, 2011, Pages 312-316

  Su, Peiqiang ^a   Ding, Hongke ^b   Huang, Dongsheng ^a   Zhou, Yan ^c,d   Huang, Weijun ^b   Zhong, Liangying ^b   Vyse, Tim J ^e,f   Wang, Yiming ^b  

^a SUN YAT SEN UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c FUDAN UNIVERSITY   (China)

^d CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; LUCIFERASE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYDACTYLY; CHINESE; CHROMOSOME 20P; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE DUPLICATION; GENE MAPPING; GENETIC CODE; HELA CELL; HUMAN; MALE; OSTEOSARCOMA; PRIORITY JOURNAL; REPORTER GENE;

BASE SEQUENCE; CELL LINE, TUMOR; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENE ORDER; GENES, REPORTER; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAND DEFORMITIES, CONGENITAL; HELA CELLS; HUMANS; MALE; PEDIGREE; PHENOTYPE;

EID: 79955538638     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.084814     Document Type: Article

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