Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues

Disease Mechanisms ◽

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Molecular Genetics, Disease Mechanisms and Therapeutic Targets

Cartilage ◽

10.1007/978-3-319-45803-8_7 ◽

2017 ◽

pp. 135-153

Author(s):

Michael D. Briggs ◽

Peter Bell ◽

Katarzyna A. Piróg

Keyword(s):

Molecular Genetics ◽

Therapeutic Targets ◽

Disease Mechanisms ◽

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1630 ◽

2021 ◽

Author(s):

Leonardo Gatticchi ◽

Dominika Vešelényiová ◽

Jan Miertus ◽

Paolo Enrico Maltese ◽

Elena Manara ◽

...

Keyword(s):

Stargardt Disease ◽

MULTIPLE EPIPHYSEAL DYSPLASIA: A FAMILY STUDY

Rheumatology ◽

10.1093/rheumatology/18.4.239 ◽

1979 ◽

Vol 18 (4) ◽

pp. 239-242 ◽

Cited By ~ 3

Author(s):

T. GIBSON ◽

J. HIGHTON

Keyword(s):

Family Study ◽

Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19960503)63:1<55::aid-ajmg12>3.0.co;2-t ◽

1996 ◽

Vol 63 (1) ◽

pp. 55-61 ◽

Cited By ~ 3

Author(s):

R. Brian Lowry ◽

Richard L. Wesenberg ◽

Judith G. Hall

Keyword(s):

Cleft Palate ◽

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

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.33751 ◽

2010 ◽

Vol 155 (1) ◽

pp. 154-163 ◽

Cited By ~ 11

Author(s):

Jirair K. Bedoyan ◽

Marci M. Lesperance ◽

Todd Ackley ◽

Ramaswamy K. Iyer ◽

Jeffrey W. Innis ◽

...

Keyword(s):

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

Human Molecular Genetics ◽

10.1093/hmg/ddp466 ◽

2009 ◽

Vol 19 (1) ◽

pp. 52-64 ◽

Cited By ~ 27

Author(s):

Katarzyna A. Piróg ◽

Oihane Jaka ◽

Yoshihisa Katakura ◽

Roger S. Meadows ◽

Karl E. Kadler ◽

...

Keyword(s):

Mouse Model ◽

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

American Journal of Medical Genetics ◽

10.1002/ajmg.10234 ◽

2001 ◽

Vol 106 (4) ◽

pp. 244-250 ◽

Cited By ~ 84

Author(s):

Sheila Unger ◽

Jacqueline T. Hecht

Keyword(s):

Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2013-0006 ◽

2014 ◽

Vol 27 (1-2) ◽

Author(s):

Dong Wang ◽

Jie Qin ◽

Chenguang Zhao ◽

Xijing He

Keyword(s):

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

Journal of Orthopaedics ◽

10.1016/j.jor.2017.08.011 ◽

2017 ◽

Vol 14 (4) ◽

pp. 515-519 ◽

Cited By ~ 1

Author(s):

Takashi Yoshida ◽

Wook-Cheol Kim ◽

Yoshinobu Oka ◽

Masashi Nakase ◽

Atsushi Nishida ◽

...

Keyword(s):

Case Report ◽

Osteochondritis Dissecans ◽

Wedge Osteotomy ◽

Rapidly progressive scoliosis in multiple epiphyseal dysplasia. A case report

The Journal of Bone and Joint Surgery (American) ◽

10.2106/00004623-197658050-00022 ◽

1976 ◽

Vol 58 (5) ◽

pp. 703-704

Author(s):

JA Herring

Keyword(s):

Case Report ◽

Progressive Scoliosis ◽