HESX1Mutations Are an Uncommon Cause of Septooptic Dysplasia and Hypopituitarism-Reference-Cited by-同舟云学术

HESX1Mutations Are an Uncommon Cause of Septooptic Dysplasia and Hypopituitarism

Published:2006-12-05 Issue:2 Volume:92 Page:691-697
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

McNay David E. G.¹,Turton James P.¹,Kelberman Daniel¹,Woods Kathryn S.¹,Brauner Raja²,Papadimitriou Anastasios³,Keller Eberhard⁴,Keller Alexandra⁴,Haufs Nele⁵,Krude Heiko⁵,Shalet Stephen M.⁶,Dattani Mehul T.¹

Affiliation:

1. Biochemistry, Endocrinology, and Metabolism Unit (D.E.G.M., J.P.T., D.K., K.S.W., M.T.D.), Institute of Child Health, London WC1N 1EH, United Kingdom

2. Université Paris-Descartes, Assistance Publique Hopitaux de Paris, Hôpital Bicêtre (R.B.), 94275 Le Kremlin Bicêtre, France

3. Third Department of Pediatrics (A.P.), University of Athens School of Medicine, Athens, Greece

4. Hospital for Children and Adolescents (E.K., A.K.), University of Leipzig, Leipzig, Germany

5. Charite (N.H., H.K.), Institute of Experimental Pediatric Endocrinology, Augustenburgerplatz 1, D-13353 Berlin, Germany

6. Department of Endocrinology (S.M.S.), Christie Hospital National Health Service Trust, Manchester, United Kingdom

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/92/2/691/9053643/jcem0691.pdf

Reference30 articles.

1. Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia.;Arslanian;Acta Endocrinol Copenh,1984

2. Maternal age in patients with septo-optic dysplasia.;Murray;J Pediatr Endocrinol Metab,2005

3. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England.;Patel;J Pediatr,2006

4. Evidence for possible Mendelian inheritance of septo-optic dysplasia.;Wales;Acta Paediatr,1996

5. Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.;Rainbow;Clin Endocrinol (Oxf),2005

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