Enchondromatosis revisited: New classification with molecular basis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 3, 2012, Pages 154-164

  Superti Furga, Andrea ^a   Spranger, Jürgen ^b   Nishimura, Gen ^c  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF FREIBURG   (Germany)

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

Author keywords

Bone tissue; Enchondromatosis

Indexed keywords

2 HYDROXYGLUTARIC ACIDURIA; ACIDURIA; ARTICLE; BONE MATRIX; BONE RADIOGRAPHY; CARTILAGE CELL; CARTILAGE MATRIX; CELL PROLIFERATION; CHONDROMATOSIS; CHONDROPATHY; DISEASE CLASSIFICATION; DYSSPONDYLOENCHONDROMATOSIS; ENCHONDRODYSPLASIA; ENCHONDROMATOSIS; GENOCHONDROMATOSIS; HUMAN; HYDROXYGLUTARIC ACIDURIA; INHERITANCE; MAFFUCCI DISEASE; METACHONDROMATOSIS; METAPHYSEAL CHONDROMATOSIS; METAPHYSIS; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SPONDYLOENCHONDRODYSPLASIA;

ENCHONDROMATOSIS; HUMANS;

EID: 84864053708     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31331     Document Type: Article

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