Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese-Reference-Cited by-同舟云学术

Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese

Published:2014-03-20 Issue:3 Volume:9 Page:e90640
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Wu Yi-Lei,Hwang Daw-Yang,Hsiao Hui-Pin,Ting Wei-Hsin,Huang Chi-Yu,Tsai Wen-Yu,Chen Hung-Chun,Chao Mei-Chyn,Lo Fu-Sung,Tsai Jeng-Daw,Yang Stone,Shih Shin-Lin,Lin Shuan-Pei,Lin Chiung-Ling,Lee Yann-Jinn

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference57 articles.

1. Pseudohypoparathyroidism: an example of Seabright-Bantam syndrome;F Albright;Endocrinology,1942

2. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance;EL Germain-Lee;J Clin Endocrinol Metab,2003

3. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism;L De Sanctis;Pediatr Res,2003

4. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalpha-receptor interaction;S Thiele;Hum Mutat,2011

5. Bringhurst FR, Demay MB, Kronenberg HM (2011) Hormones and disorders of mineral metabolism. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, editors. Williams Textbook of Endocrinology. 12th ed. Philadelphia: Saunders Elsevier. 1237–1304.

Cited by 7 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. A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype;Genes;2023-01-26

2. Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, Who Had Congenital Hypothyroidism as the First Manifestation;Journal of Clinical Research in Pediatric Endocrinology;2021-08-01

3. A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family;Bone Reports;2021-06

4. Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family;Medicine;2020-05-22

5. Pseudohypoparathyroidism;Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism;2018-09-28