| 1 | BLOD, PTH1R
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| Novel Mutations in the Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Type 1 Causing Blomstrand Osteochondrodysplasia Types I and II.
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| Hoogendam J, Farih-Sips H, Wynaendts LC, Lowik CW, Wit JM, Karperien M.
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| J Clin Endocrinol Metab 92(3):1088-95. Epub 2006 Dec 12. 2007
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| 2 | 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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| 3 | BLOD, PTH1R
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| Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
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| Jobert AS, et al.
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| J Clin Invest 102 : 34-40. 1998
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| 4 | BLOD, PTH1R
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| A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
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| Zhang P, et al.
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| J Clin Endocrinol Metab 83 : 3365-3368. 1998
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| 5 | BLOD, PTH1R
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| Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia.
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| Karaplis AC, et al.
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| Endocrinology 139 : 5255-5258. 1998
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