(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I-Reference-Cited by-同舟云学术

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I

Published:2017-11-21 Issue:1 Volume:2 Page:9-23
ISSN:2472-1972
Container-title:Journal of the Endocrine Society
language:en
Short-container-title:

Author:

Sano Shinichiro¹²,Nakamura Akie¹,Matsubara Keiko¹,Nagasaki Keisuke³,Fukami Maki¹,Kagami Masayo¹,Ogata Tsutomu¹²

Affiliation:

1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

2. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan

3. Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan

Funder

Japan Society for the Promotion of Science

National Center for Child Health and Development

Japan Agency for Medical Research and Development

Japanese Society for Pediatric Endocrinology Future Development

Publisher

The Endocrine Society

Subject

Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jes/article-pdf/2/1/9/23434665/js.2017-00293.pdf

Reference38 articles.

1. Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues;Mantovani;Nat Rev Endocrinol,2016

2. The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads;Mantovani;J Clin Endocrinol Metab,2002

3. Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism;Fernández-Rebollo;J Clin Endocrinol Metab,2013

4. Genetic and epigenetic alterations in the GNAS locus and clinical consequences in pseudohypoparathyroidism: Italian common healthcare pathways adoption;de Sanctis;Ital J Pediatr,2016

5. A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright’s hereditary osteodystrophy;Pohlenz;Eur J Endocrinol,2003

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