| 1 | FIHP, GCM2
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| Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.
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| Yi HS, Eom YS, Park IeB, Lee S, Hong S, Jüppner H, Mannstadt M, Lee S.
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| Clin Endocrinol (Oxf) 76(5):625-33. doi: 10.1111/j.1365-2265.2011.04256.x.
2012
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| 2 | FIHP, GCM2
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| Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
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| Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV.
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| Hum Mol Genet 19(10):2028-38. Epub 2010 Feb 27.
2010
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| 3 | CASR, FIHP, GCM2
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| Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
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| Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN.
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| Hum Mutat 30(1):85-92.
2009
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| 4 | FIHP, GCM2
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| Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
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| Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H, Silve C.
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| J Clin Endocrinol Metab 93(9):3568-76. Epub 2008 Jun 26.
2008
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| 5 | FIHP, GCM2
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| Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
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| Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, Trembath RC.
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| J Med Genet 42(5):443-8. No abstract available. 2005
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| 6 | FIHP, GCM2
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| GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
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| Thomee C, Schubert SW, Parma J, Le PQ, Hashemolhosseini S, Wegner M, Abramowicz MJ.
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| J Clin Endocrinol Metab 90(5):2487-92. Epub 2005 Feb 22. 2005
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| 7 | FIHP, GCM2
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| Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
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| Ding C, Buckingham B, Levine MA.
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| J Clin Invest 108(8):1215-20. 2001
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