| 1 | ECDMM1, PTH1R
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| Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.
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| Pansuriya TC, Oosting J, Verdegaal SH, Flanagan AM, Sciot R, Kindblom LG, Hogendoorn PC, Szuhai K, Bovée JV.
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| Genes Chromosomes Cancer 50(9):673-9. doi: 10.1002/gcc.20889. Epub 2011 May 16.
2011
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| 2 | ECDMM1, PTH1R
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| PTHR1 mutations associated with Ollier disease result in receptor loss of function.
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| Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C.
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| Hum Mol Genet 17(18):2766-75. Epub 2008 Jun 17. 2008
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| 3 | BLOD, CDMJ, ECDMM1, EKNS, PTH1R
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| Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
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| Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C.
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| Hum Mol Genet 14(1):1-5. Epub 2004 Nov 3. 2005
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| 4 | ECDMM1, PTH1R
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| A mutant PTH/PTHrP type I receptor in enchondromatosis.
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| Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, Alman BA.
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| Nat Genet 30(3):306-10. Epub 2002 Feb 19. 2002
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