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. 2013 Jun;21(6).
doi: 10.1038/ejhg.2012.211. Epub 2012 Sep 12.

Clinical utility gene card for: pseudohypoparathyroidism

Giovanna Mantovani  1 , Agnes Linglart, Intza Garin, Caroline Silve, Francesca M Elli, Guiomar Perez de Nanclares
Affiliations

Clinical utility gene card for: pseudohypoparathyroidism

Giovanna Mantovani et al. Eur J Hum Genet. 2013 Jun.
No abstract available

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References

    1. Mantovani G. Clinical review: pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011;96:3020–3030. - PubMed
    1. Linglart A, Carel JC, Garabedian M, Le T, Mallet E, Kottler ML. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab. 2002;87:189–197. - PubMed
    1. Fernandez-Rebollo E, Garcia-Cuartero B, Garin I, et al. Intragenic GNAS deletion involving Exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab. 2010;95:765–771. - PMC - PubMed
    1. Mitsui T, Nagasaki K, Takagi M, Narumi S, Ishii T, Hasegawa T.A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus Am J Med Genet A 2011. e-pub ahead of print 2 December 2011 doi:10.1002/ajmg.a.34393 - DOI - PubMed
    1. Mantovani G, de SL, Barbieri AM, et al. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab. 2010;95:651–658. - PubMed

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