| 1 | GNAS, PHP1A, PHP1B, PHP1C
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| Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
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| de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M.
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| J Clin Endocrinol Metab 92(6):2370-3. Epub 2007 Apr 3. 2007
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| 2 | GNAS, PHP1C
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| A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
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| Thiele S, Werner R, Ahrens W, Hoppe U, Marschke C, Staedt P, Hiort O.
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| J Clin Endocrinol Metab 92(5):1764-8. Epub 2007 Feb 13. 2007
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| 3 | GNAS, PHP1C, PPHP
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| Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
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| De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scire G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I.
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| Pediatr Res 53(5):749-55. Epub 2003 Mar 5. 2003
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| 4 | DEL20Q13, GNAS, PHP1A, PHP1C
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| Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
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| Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L.
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| Am J Med Genet 113(2):167-72. 2002
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| 5 | GNAS, PHP1A, PHP1C
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| Imprinting in Albright's hereditary osteodystrophy.
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| Davies SJ, et al.
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| J Med Genet 30 : 101-103. 1993
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| 6 | GNAS, PHP1C
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| Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.
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| Levine MA, Ahn TG, Klupt SF, Kaufman KD, Smallwood PM, Bourne HR, Sullivan KA, Van Dop C.
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| Proc Natl Acad Sci U S A 85(2):617-21. 1988
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