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Reference Info.
Pubmed ID 26974433  
RRC ID 37878 
Author Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S. 
Title Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. 
Journal PLoS ONE 
Published 2016-3-15 
Volume 11(3) 
Pages e0150555 
DOI 10.1371/journal.pone.0150555   
PII PONE-D-15-47610 
MeSH
Adolescent
Cartilage / metabolism
Cartilage / pathology
Cell Differentiation / genetics
Child
Child, Preschool
Female
Gene Expression Regulation
Genetic Diseases, Inborn / diagnostic imaging
Genetic Diseases, Inborn / genetics*
Genetic Diseases, Inborn / metabolism
Humans
Male
Mutation*
Osteochondrodysplasias / diagnostic imaging
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / metabolism
Phenotype
Proteins / genetics*
Proteins / metabolism
Radiography
Retina / metabolism
Retina / pathology
Young Adult
Resource Info.
Species Human and Animal Cells 
Resource name
ATDC5(RCB0565

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