Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations

PLoS ONE

Volumn 11, Issue 3, 2016, Pages

  Wang, Zheng ^a,b   Iida, Aritoshi ^a   Miyake, Noriko ^c   Nishiguchi, Koji M ^d   Fujita, Kosuke ^d   Nakazawa, Toru ^d   Alswaid, Abdulrahman ^e   Albalwi, Mohammed A ^f   Kim, Ok Hwa ^g   Cho, Tae Joon ^h   Lim, Gye Yeon ⁱ   Isidor, Bertrand ^j   David, Albert ^j   Rustad, Cecilie F ^k   Merckoll, Else ^k   Westvik, Jostein ^k   Stattin, Eva Lena ^l   Grigelioniene, Giedre ^m   Kou, Ikuyo ^a   Nakajima, Masahiro ^a   Ohashi, Hirohumi ⁿ   Smithson, Sarah ^o   Matsumoto, Naomichi ^c   Nishimura, Gen ^p   Ikegawa, Shiro ^a   more..

^a Institute of Physical and Chemical Research   (Japan)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^c YOKOHAMA CITY UNIVERSITY   (Japan)

^d TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e KING ABDULLAH INTERNATIONAL MEDICAL RESEARCH CENTER   (Saudi Arabia)

^f KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^g Woorisoa Children s Hospital   (South Korea)

^h Seoul National University   (South Korea)

ⁱ The Catholic University of Korea   (South Korea)

^j NANTES UNIVERSITY HOSPITAL   (France)

^k OSLO UNIVERSITY HOSPITAL   (Norway)

^l UMEÅ UNIVERSITY   (Sweden)

^m KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

ⁿ SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^o ST MICHAEL'S HOSPITAL   (United Kingdom)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

RNA; C21ORF2 PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CARTILAGE CELL; CAUSAL ATTRIBUTION; CHILD; CHROMOSOME 21 OPEN READING FRAME 2 GENE; CLINICAL ARTICLE; DYSPLASIA; EXOME; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; SPONDYLOMETAPHYSEAL DYSPLASIA; CARTILAGE; CELL DIFFERENTIATION; CHONDRODYSPLASIA; DIAGNOSTIC IMAGING; GENE EXPRESSION REGULATION; GENETIC DISORDER; GENETICS; METABOLISM; MUTATION; PATHOLOGY; PRESCHOOL CHILD; RADIOGRAPHY; RETINA; YOUNG ADULT;

ADOLESCENT; CARTILAGE; CELL DIFFERENTIATION; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION REGULATION; GENETIC DISEASES, INBORN; HUMANS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROTEINS; RADIOGRAPHY; RETINA; YOUNG ADULT;

EID: 84961577218     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0150555     Document Type: Article

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