17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome

Author:

El Chehadeh-Djebbar Salima,Callier Patrick,Masurel-Paulet Alice,Bensignor Candace,Méjean Nathalie,Payet Muriel,Ragon Clémence,Durand Christine,Marle Nathalie,Mosca-Boidron Anne-Laure,Huet Frédéric,Mugneret Francine,Faivre Laurence,Thauvin-Robinet Christel

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference20 articles.

1. Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development;Arrigo;J. Endocrinol. Invest.,2006

2. A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism;Castinetti;J. Clin. Endocrinol. Metab.,2008

3. Expression cloning of a human corticotropin-releasing-factor receptor;Chen;Proc. Natl. Acad. Sci. U S A,1993

4. Developmental abnormalities of the posterior pituitary gland;di Iorgi;Endocr. Dev.,2009

5. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation;Dubourg;Eur. J. Med. Genet.,2010

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