Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Endocrinology
Volume 2016, Article ID 2691385, 6 pages
http://dx.doi.org/10.1155/2016/2691385
Case Report

A Novel T55A Variant of Gsα Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis

1Division of Endocrinology, Diabetes, and Metabolism and The Institute for Human Genetics, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, USA
2Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
3Departments of Pathology and Laboratory Medicine, University of California, San Francisco, San Francisco, CA 94143, USA

Received 28 February 2016; Revised 3 June 2016; Accepted 3 July 2016

Academic Editor: Hidetoshi Ikeda

Copyright © 2016 Kelly Wentworth et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Supplementary Material

The supplementary material includes the additional thirty gene variants that were identified on exome sequencing.

  1. Supplementary Material