scholarly journals Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

2019 ◽  
Vol 179 (4) ◽  
pp. 534-541 ◽  
Author(s):  
Vinod Dasa ◽  
James R.B. Eastwood ◽  
Michal Podgorski ◽  
Heewon Park ◽  
Christopher Blackstock ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia ◽  
Col2a1 Mutation

scholarly journals Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

2017 ◽  
Vol 130 (1) ◽  
pp. 104-107 ◽  
Author(s):  
Hong-Yan Liu ◽  
Ji-Fang Xiao ◽  
Jia Huang ◽  
Yue Wang ◽  
Dong Wu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Multiple Epiphyseal Dysplasia ◽  
Chinese Family ◽  
Whole Exome ◽  
Epiphyseal Dysplasia

scholarly journals Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

2021 ◽  
Author(s):  
Leonardo Gatticchi ◽  
Dominika Vešelényiová ◽  
Jan Miertus ◽  
Paolo Enrico Maltese ◽  
Elena Manara ◽  
...  
Keyword(s):  
Multiple Epiphyseal Dysplasia ◽  
Stargardt Disease ◽  
Epiphyseal Dysplasia

MULTIPLE EPIPHYSEAL DYSPLASIA: A FAMILY STUDY

Rheumatology ◽  
1979 ◽  
Vol 18 (4) ◽  
pp. 239-242 ◽  
Author(s):  
T. GIBSON ◽  
J. HIGHTON
Keyword(s):  
Family Study ◽  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia

scholarly journals A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia

2010 ◽  
Vol 155 (1) ◽  
pp. 154-163 ◽  
Author(s):  
Jirair K. Bedoyan ◽  
Marci M. Lesperance ◽  
Todd Ackley ◽  
Ramaswamy K. Iyer ◽  
Jeffrey W. Innis ◽  
...  
Keyword(s):  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia

scholarly journals A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia

2009 ◽  
Vol 19 (1) ◽  
pp. 52-64 ◽  
Author(s):  
Katarzyna A. Piróg ◽  
Oihane Jaka ◽  
Yoshihisa Katakura ◽  
Roger S. Meadows ◽  
Karl E. Kadler ◽  
...  
Keyword(s):  
Mouse Model ◽  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia

scholarly journals Modyfied wedge osteotomy for osteoarthritis of elbow secondary to osteochondritis dissecans in adolecent with multiple epiphyseal dysplasia. A case report

2017 ◽  
Vol 14 (4) ◽  
pp. 515-519 ◽  
Author(s):  
Takashi Yoshida ◽  
Wook-Cheol Kim ◽  
Yoshinobu Oka ◽  
Masashi Nakase ◽  
Atsushi Nishida ◽  
...  
Keyword(s):  
Case Report ◽  
Osteochondritis Dissecans ◽  
Multiple Epiphyseal Dysplasia ◽  
Wedge Osteotomy ◽  
Epiphyseal Dysplasia
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