Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib-Reference-Cited by-同舟云学术

Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib

Published:2015 Issue:6 Volume:62 Page:523-529
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Sano Shinichiro¹²,Iwata Hiromi³,Matsubara Keiko²,Fukami Maki²,Kagami Masayo²,Ogata Tsutomu¹²

Affiliation:

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

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

3. Department of Pediatrics, Fukuoka Tokushukai Hospital, Fukuoka 816-0864, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. 1. Weinstein LS, Yu S, Warner DR, Liu J (2001) Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 22: 675-705.

2. 2. Mantovani G (2011) Clinical review: Pseudohypopara-thyroidism: diagnosis and treatment. J Clin Endocrinol Metab 96: 3020-3030.

3. 3. Bastepe M, Fröhlich 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. 4. Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M (2005) A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet 76: 804-814.

5. 5. de Sanctis L, Bellone J, Salerno M, Faleschini E, Caruso-Nicoletti M, et al. (2007) GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. J Endocrinol Invest 30: 97-103.

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3. Autosomal dominant pseudohypoparathyroidism type 1B due to STX16 deletion: a case presentation and literature review;Minerva Endocrinology;2022-02

4. High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects;The Journal of Clinical Endocrinology & Metabolism;2021-06-22

5. Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib ( PHP1B ): Another Example of Transmission Ratio Distortion;Journal of Bone and Mineral Research;2020-12-27