Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification-Reference-Cited by-同舟云学术

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification

Published:2013 Issue:2 Volume:60 Page:231-236
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Nagasaki Keisuke¹²,Tsuchiya Shuichi³,Saitoh Akihiko²,Ogata Tsutomu¹⁴,Fukami Maki¹

Affiliation:

1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

2. Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan

3. Department of Pediatrics, Ojiya general Hospital, Niigata 947-8641, Japan

4. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/60/2/60_EJ12-0257/_pdf

Reference12 articles.

1. Endocrine Manifestations of Stimulatory G Protein -Subunit Mutations and the Role of Genomic Imprinting

2. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

3. 4. Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, et al. (2003) Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 112: 1255-1263.

4. 5. Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, et al. (2005) Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 37: 25-27.

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