A Novel Gata3 Nonsense Mutation In A Newly Diagnosed Adult Patient Of Hypoparathyroidism, Deafness, And Renal Dysplasia (Hdr) Syndrome-Reference-Cited by-同舟云学术

A Novel Gata3 Nonsense Mutation In A Newly Diagnosed Adult Patient Of Hypoparathyroidism, Deafness, And Renal Dysplasia (Hdr) Syndrome

Published:2013-01 Issue:1 Volume:19 Page:e17-e20
ISSN:1530-891X
Container-title:Endocrine Practice
language:en
Short-container-title:Endocrine Practice

Author:

Nanba Kazutaka,Usui Takeshi,Nakamura Michikazu,Toyota Yuko,Hirota Keisho,Tamanaha Tamiko,Sachiko-Tsukamoto Kawashima,Nakao Kanako,Yuno Akiko,Tagami Tetsuya,Naruse Mitsuhide,Shimatsu Akira

Publisher

Elsevier BV

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

Link

http://aace.metapress.com/index/N0X827143T176252.pdf

Reference19 articles.

1. Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia;Bilous;N Engl J Med,1992

2. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13);Hasegawa;Am J Med Genet,1997

3. Calcification of the basal ganglia in chronic hypoparathyroidism;Rastogi;J Clin Endocrinol Metab,2003

4. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome;Muroya;J Med Genet,2001

5. Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome;Nakamura;Endocr J,2011

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