A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism-Reference-Cited by-同舟云学术

A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism

Published:2008-07-01 Issue:7 Volume:93 Page:2790-2799
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Castinetti F.¹,Saveanu A.²¹,Reynaud R.¹,Quentien M. H.¹,Buffin A.³,Brauner R.⁴,Kaffel N.⁵,Albarel F.¹,Guedj A. M.⁶,El Kholy M.⁷,Amin M.⁸,Enjalbert A.²¹,Barlier A.²¹,Brue T.¹

Affiliation:

1. Centre de Recherche en neurobiologie et neurophysiologie de Marseille (CRN2M) (F.C., A.S., R.R., M.H.Q., F.A., A.E., A.Ba., T.B.), Unité Mixte de Recherche 6231, Faculté de Médecine Nord, Centre National de la Recherche Scientifique, Université de la Méditerranée and Centre de Référence des déficits hypophysaires, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, 13385 M

2. Laboratoire de Biochimie-Biologie Moléculaire (A.S., A.E., A.Ba.), Hôpital Conception, 13005 Marseille, France

3. Service de Pédiatrie (A.Bu.), Centre Hospitalier Chambéry, 73000 Chambéry France

4. Université Paris-Descartes et Assistance Publique–Hôpitaux de Paris (R.B.), Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France

5. Service d’endocrinologie (N.K.), Centre Hospitalier Universitaire Hedi-Chaker, route El-Ain, 3029 Sfax, Tunisie

6. Service des Maladies Métaboliques et Endocriniennes (A.M.G.), Centre Hospitalier Universitaire de Nîmes, 30000 Nîmes France

7. Department of Paediatrics (M.E.K.), Ain Shams University, 11566 Cairo, Egypt

8. Department of Paediatrics (M.A.), Cairo University, 11566 Cairo, Egypt

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/93/7/2790/9059636/jcem2790.pdf

Reference32 articles.

1. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.;Kelberman;Ann Med,2006

2. Pituitary hormone deficiencies due to transcription factor gene alterations.;Reynaud;Growth Horm IGF Res,2004

3. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.;Li;Nature,1990

4. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism.;Sornson;Nature,1996

5. Lhx4, a LIM homeobox gene.;Yamashita;Genomics,1997

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