U22408[Secondary Source ID] - Search Results

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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

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.

Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J, et al. Schipani E, et al. J Clin Endocrinol Metab. 1995 May;80(5):1611-21. doi: 10.1210/jcem.80.5.7745008. J Clin Endocrinol Metab. 1995. PMID: 7745008

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