OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters-Reference-Cited by-同舟云学术

OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters

Published:2008-10-01 Issue:10 Volume:93 Page:3697-3702
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Dateki Sumito¹²,Fukami Maki¹,Sato Naoko¹,Muroya Kouji³,Adachi Masanori³,Ogata Tsutomu¹

Affiliation:

1. Department of Endocrinology and Metabolism (S.D., M.F., N.S., T.O.), National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

2. Department of Pediatrics (S.D.), Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501

3. Division of Endocrinology and Metabolism (K.M., M.A.), Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/93/10/3697/9052204/jcem3697.pdf

Reference29 articles.

1. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.;Hever;Clin Genet,2006

2. Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants.;Chatelain;J Mol Med,2006

3. Heterozygous mutations of OTX2 cause severe ocular malformations.;Ragge;Am J Hum Genet,2005

4. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.;Henderson;Eur J Hum Genet,2007

5. A case of deletion 14(q22.1->q22.3) associated with anophthalmia and pituitary abnormalities.;Elliott;J Med Genet,1993

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