COL2A1-related skeletal dysplasias with predominant metaphyseal involvement

American Journal of Medical Genetics, Part A

Volumn 143, Issue 2, 2007, Pages 161-167

  Walter, Kerstin ^a   Tansek, Mojca ^b   Tobias, Edward S ^c   Ikegawa, Shiro ^d   Coucke, Paul ^e   Hyland, James ^f   Mortier, Geert ^e   Iwaya, Tsutomu ^g   Nishimura, Gen ^h   Superti Furga, Andrea ^a   Unger, Sheila ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d SNP Research Center   (Japan)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f Connective Tissue GeneTests ^*  (United States)

^g NATIONAL REHABILITATION CENTER FOR PERSONS WITH DISABILITIES   (Japan)

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

Author keywords

COL2A1; Murdoch dysplasia; SEMD Studwick type; SMD Corner fracture type; SMD Sutcliffe type; Type 2 collagen

Indexed keywords

ARGININE; COLLAGEN TYPE 2; GLYCINE; MUTANT PROTEIN; PROTEIN COL2A1; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; CHONDRODYSPLASIA; CLINICAL FEATURE; COL2A1 GENE; DISEASE SEVERITY; EPIPHYSIS; FEMALE; FRACTURE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; LONG BONE; MALE; METAPHYSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA; STRUCTURAL GENE; STRUDWICK TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; SUTCLIFFE TYPE SPONDYLOMETAPHYSEAL DYSPLASIA; VERTEBRA BODY;

ADOLESCENT; CHILD; COLLAGEN TYPE II; FEMALE; FEMUR; HUMANS; HUMERUS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; SPINE; TIBIA;

EID: 33846008071     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31516     Document Type: Article

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