Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men-Reference-Cited by-同舟云学术

Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men

Published:2019-02-27 Issue:7 Volume:104 Page:2925-2930
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Brachet Cécile¹^ORCID,Kozhemyakina Elena A²³⁴⁵,Boros Emese¹,Heinrichs Claudine¹,Balikova Irina⁶,Soblet Julie⁷⁸⁹,Smits Guillaume⁷⁸⁹,Vilain Catheline⁷⁸⁹,Mathers Peter H²³⁴⁵

Affiliation:

1. Pediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium

2. Department of Biochemistry, West Virginia University School of Medicine, Morgantown, West Virginia

3. Department of Otolaryngology, West Virginia University School of Medicine, Morgantown, West Virginia

4. Department of Ophthalmology, West Virginia University School of Medicine, Morgantown, West Virginia

5. Department of Neuroscience, West Virginia University School of Medicine, Morgantown, West Virginia

6. Pediatric Ophthalmology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium

7. Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium

8. Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium

9. Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium

Funder

National Eye Institute

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/104/7/2925/28751445/jc.2018-02316.pdf

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5. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters;Dateki;J Clin Endocrinol Metab,2008

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