Progressive osseous heteroplasia caused by a mosaic GNAS mutation-Reference-Cited by-同舟云学术

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Progressive osseous heteroplasia caused by a mosaic GNAS mutation

Published:2018-03-25 Issue:6 Volume:88 Page:993-995
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Pereda Arrate¹,Martos-Tello Jose Maria²,Garin Intza¹,Errea-Dorronsoro Javier¹,Perez de Nanclares Guiomar¹^ORCID

Affiliation:

1. Molecular (Epi)Genetics Laboratory; BioAraba National Health Institute; OSI Araba University Hospital; Vitoria-Gasteiz Spain

2. Service of Pediatrics; “Virgen de la Arrixaca” University Hospital; Murcia Spain

Funder

Instituto de Salud Carlos III

European Regional Development Fund

Department of Health of the Basque Government

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.13584/fullpdf

Reference5 articles.

1. Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases;Kaplan;J Bone Joint Surg Am,1994

2. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification;Adegbite;Am J Med Genet Part A,2008

3. Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia;Cairns;J Clin Invest,2013

4. Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series;Elli;Bone,2013

5. Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: somatic mosaicism in a mother with two affected sons;Ngai;Am J Med Genet Part A,2010

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. GNAS locus: bone related diseases and mouse models;Frontiers in Endocrinology;2023-10-18

2. Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review;BMC Musculoskeletal Disorders;2023-03-31

3. Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2;Frontiers in Endocrinology;2023-01-04

4. Congenital cutaneous ossification;Journal of Paediatrics and Child Health;2021-10-27

5. Targeting heterotopic ossification by inhibiting activin receptor‑like kinase 2 function (Review);Molecular Medicine Reports;2019-08-06

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