Nosology and classification of genetic skeletal disorders: 2010 revision

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 943-968

  Warman, Matthew L ^a   Cormier Daire, Valerie ^b   Hall, Christine ^c   Krakow, Deborah ^d,e   Lachman, Ralph ^d   Lemerrer, Martine ^b   Mortier, Geert ^f   Mundlos, Stefan ^g   Nishimura, Gen ^h   Rimoin, David L ^d   Robertson, Stephen ⁱ   Savarirayan, Ravi ^j   Sillence, David ^k   Spranger, Juergen ^l   Unger, Sheila ^l,m   Zabel, Bernhard ^l   Superti Furga, Andrea ^l,m  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b INSERM   (France)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d CEDARS SINAI MEDICAL CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

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

ⁱ UNIVERSITY OF OTAGO   (New Zealand)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k University of Sydney   (Australia)

^l UNIVERSITY OF FREIBURG   (Germany)

^m LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

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Author keywords

Dysostoses; Molecular basis of disease; Nosology; Osteochondrodysplasias; Skeletal genetics

Indexed keywords

AGGRECAN; COLLAGEN TYPE 11; COLLAGEN TYPE 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; FILAMIN; PERLECAN; VANILLOID RECEPTOR 4;

ALBERS SCHOENBERG DISEASE; ARTICLE; BONE DEMINERALIZATION; BONE DISEASE; BONE DYSPLASIA; BONE MALFORMATION; CHONDRODYSPLASIA; CHONDRODYSPLASIA PUNCTATA; CLEIDOCRANIAL DYSPLASIA; CRANIOFACIAL SYNOSTOSIS; DISEASE CLASSIFICATION; DYSOSTOSIS; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SKELETAL DISORDER; HUMAN; HYPOPLASIA; INHERITANCE; JOINT DISLOCATION; JOINT MALFORMATION; LYSOSOME STORAGE DISEASE; OSTEOARTHROPATHY; OSTEOGENESIS IMPERFECTA; OSTEOLYSIS; OSTEOSCLEROSIS; POLYDACTYLY; PRIORITY JOURNAL; SYNDACTYLY;

BONE DISEASES; GENETIC DISEASES, INBORN; HUMANS; MUTATION;

EID: 79955042501     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33909     Document Type: Article

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