Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion AblatingSTX16Causes Loss of Imprinting at the A/B DMR-Reference-Cited by-同舟云学术

Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion AblatingSTX16Causes Loss of Imprinting at the A/B DMR

Published:2014-04-01 Issue:4 Volume:99 Page:E724-E728
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Elli Francesca M.¹,de Sanctis Luisa²,Peverelli Erika¹,Bordogna Paolo¹,Pivetta Barbara³,Miolo Gianmaria³,Beck-Peccoz Paolo¹,Spada Anna¹,Mantovani Giovanna¹

Affiliation:

1. Department of Clinical Sciences and Community Health (F.M.E., E.P., P.B., P.B.-P., A.S., G.Ma.), Endocrinology and Diabetology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Ospedale Maggiore Policlinico, University of Milan, 20122 Milan, Italy

2. Department of Public Health and Pediatrics (L.d.S.), University of Turin, Regina Margherita Children's Hospital, 10126 Turin, Italy

3. Department of Laboratory Medicine (B.P., G.Mi.), Cytogenetics and Molecular Biology Unit, Santa Maria degli Angeli Hospital, 33085 Pordenone, Italy

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/99/4/E724/9050703/jcemE724.pdf

Reference19 articles.

1. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients,;Mantovani;J Clin Endocrinol Metab,2010

2. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?;Mantovani;Horm Metab Res,2012

3. Clinical review: pseudohypoparathyroidism: diagnosis and treatment;Mantovani;J Clin Endocrinol Metab,2011

4. A GNAS imprinting defect in pseudohypoparathyroidism type Ib;Liu;J Clin Invest,2000

5. GNAS locus and pseudohypoparathyroidism;Bastepe;Horm Res,2005

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