Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome-Reference-Cited by-同舟云学术

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome

Published:2011 Issue:2 Volume:58 Page:123-130
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Nakamura Akie¹,Fujiwara Fumie¹,Hasegawa Yukihiro²,Ishizu Katsura¹,Mabe Akiyo³,Nakagawa Hiroyasu⁴,Nagasaki Keisuke⁵,Jo Wakako¹,Tajima Toshihiro¹

Affiliation:

1. Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan

2. Endocrinology and Metabolism Unit, Tokyo Metropolitan Children’s Hospital, Fuchu, Japan

3. Department of Child Development, Kumamoto University Graduate School, Kumamoto, Japan

4. Department of Pediatrics, FukuiKen Saiseikai Hospital, Fukui, Japan

5. Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, Niigata, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://www.jstage.jst.go.jp/article/endocrj/58/2/58_K10E-246/_pdf

Reference19 articles.

1. 1. Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Mathias D, Kendall-Taylor P (1992) Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 1327: 1069-1074.

2. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

3. Human Genome and Diseases: Review¶Transcription factor GATA3 and the human HDR syndrome

4. 4. Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001) GATA3 abnormalities and the phenotype spectrum of HDR syndrome. J Med Genet 38: 374-380.

5. 5. Ferraris S, Del Monaco AG, Garelli E, Carando A, De Vito B, Pappi P, Lala R, Ponzone A (2009) HDR syndrome: A Novel “de novo” mutation in GATA3 gene. Am J Med Genet A 149A: 770-775.

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