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The genetic basis for skeletal diseases.
Nature. 2003 May 15;423(6937):343-8. doi: 10.1038/nature01659.
Nature. 2003.
PMID: 12748653
Review.
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.
Rozeman LB, Sangiorgi L, Briaire-de Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Bovée JV.
Rozeman LB, et al.
Hum Mutat. 2004 Dec;24(6):466-73. doi: 10.1002/humu.20095.
Hum Mutat. 2004.
PMID: 15523647
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