Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in langer mesomelic dysplasia (LMD)
- Author
- CAMPOS-BARROS, Angel1 ; BENITO-SANZ, Sara1 ; ROSS, Judith L2 ; ZINN, Andrew R3 ; HEATH, Karen E1
[1] Department of Endocrinology, hospital Infantil Universitario Nino Jesus, Universidad Autónoma de Madrid, Madrid, Spain
[2] Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania, United States
[3] McDermott Center for Human Growth and Development and Department of Internal Medicine, University of Texas Southwestern Medical School, Dallas, Texas, United States - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 9, pp 933-938, 6 p ; ref : 3/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- COMP Langer mesomelic dysplasia Leri-Weill dyschondrosteosis PAR1 SHOX deletion pseudoachondroplasia
- Keyword (fr)
- Dyschondrostéose Dysplasie pseudoachondroplasique Délétion Hétérozygotie Aberration chromosomique Maladie héréditaire Malformation Ostéochondrodysplasie Système ostéoarticulaire pathologie
- Keyword (en)
- Dyschondrosteosis Pseudoachondroplasia Deletion Heterozygosity Chromosomal aberration Genetic disease Malformation Osteochondrodysplasia Diseases of the osteoarticular system
- Keyword (es)
- Discondroosteosis Displasia seudoacondroplásica Deleción Heterozigosis Aberración cromosómica Enfermedad hereditaria Malformación Osteocondrodisplasia Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Medical genetics Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18735570
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.31676 
https://dx.doi.org/10.1002/ajmg.a.31676
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