Table of Contents Author Guidelines Submit a Manuscript
International Journal of Endocrinology
Volume 2011, Article ID 509549, 5 pages
Case Report

Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

1Gout Laboratory, The Affiliated Hospital of Qingdao University Medical College, 16 Jiangsu Road, Qingdao 266003, China
2Graduate School, Peking Union Medical College, Beijing 100081, China
3Center of Genetics, National Research Institute for Family Planning, Beijing 100081, China
4Center of Genetics, World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing 100081, China

Received 15 February 2011; Accepted 23 May 2011

Academic Editor: Furio M. Pacini

Copyright © 2011 Zhi-Min Miao 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.

Citations to this Article [6 citations]

The following is the list of published articles that have cited the current article.

  • Maria Garcia-Barcina, Arrate Pereda, Intza Garin, Blanca Gener, Elena Beristain, and Ane Miren Ibanez, “Brachydactyly E: isolated or as a feature of a syndrome,” Orphanet Journal Of Rare Diseases, vol. 8, 2013. View at Publisher · View at Google Scholar
  • Yi-Lei Wu, Daw-Yang Hwang, Hui-Pin Hsiao, Wei-Hsin Ting, Chi-Yu Huang, Wen-Yu Tsai, Hung-Chun Chen, Mei-Chyn Chao, Fu-Sung Lo, Jeng-Daw Tsai, Stone Yang, Shin-Lin Shih, Shuan-Pei Lin, Chiung-Ling Lin, and Yann-Jinn Lee, “Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese,” Plos One, vol. 9, no. 3, 2014. View at Publisher · View at Google Scholar
  • Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, and Hong Jin Lee, “Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia,” Korean Journal of Pediatrics, vol. 57, no. 5, pp. 240, 2014. View at Publisher · View at Google Scholar
  • H. -J. Ham, K. -H. Baek, J. -Y. Lee, S. Y. Kim, E. Y. Mo, E. S. Kim, J. H. Han, and S. -D. Moon, “Analysis of Aberrantly Spliced Transcripts of a Novel de novo GNAS Mutant in a Male with Albright Hereditary Osteodystrophy and PHP1A,” Hormone And Metabolic Research, vol. 47, no. 8, pp. 585–590, 2015. View at Publisher · View at Google Scholar
  • Jing Xiong, Zhao-hui Mo, Ping Jin, Xiao-dan Long, and Chang-sheng Dong, “Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia,” BMC Medical Genetics, vol. 19, no. 1, 2018. View at Publisher · View at Google Scholar
  • Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, Alessia Usardi, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca M. Elli, Kathleen Freson, Aurora García Ramirez, Emily L. Germain-Lee, Lionel Groussin, Neveen Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Martin, Gabriel Ángel Martos-Moreno, Masanori Minagawa, Philip Murray, Arrate Pereda, Robert Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbuhler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip Woods, M. Carola Zillikens, Guiomar Perez de Nanclares, and Agnès Linglart, “Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement,” Nature Reviews Endocrinology, 2018. View at Publisher · View at Google Scholar