Czech dysplasia metatarsal type: Another type II collagen disorder

European Journal of Human Genetics

Volumn 15, Issue 12, 2007, Pages 1269-1275

  Hoornaert, Kristien P ^a   Marik, Ivo ^b   Kozlowski, Kazimierz ^c   Cole, Trevor ^d   Le Merrer, Martine ^e   Leroy, Jules G ^a   Coucke, Paul J ^a   Sillence, David ^c   Mortier, Geert R ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b Ambulant Centre for Defects of Locomotor Apparatus   (Czech Republic)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COLLAGEN TYPE 2; COLLAGEN TYPE 2A1; CYSTEINE; PROCOLLAGEN; PROTEIN COL2A1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BODY HEIGHT; BONE DYSPLASIA; CASE REPORT; COLLAGEN DISEASE; CZECH DYSPLASIA; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLATYSPONDYLIC SKELETAL DYSPLASIA; PRIORITY JOURNAL; SHORT STATURE; SPONDYLOARTHROPATHY; SPONDYLOPERIPHERAL DYSPLASIA; TOE MALFORMATION;

CALCIUM-BINDING PROTEINS; CHILD; COLLAGEN TYPE II; CZECH REPUBLIC; FOOT DEFORMITIES, CONGENITAL; HUMANS; KNEE; METATARSAL BONES; MUTATION; OSTEOCHONDRODYSPLASIAS;

EID: 36348969441     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201913     Document Type: Article

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