A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.

Carlomagno, Y; Salerno, M; Vivenza, D; Capalbo, D; Godi, M; Mellone, S; Tiradani, L; Corneli, G; Momigliano-Richiardi, P; Bona, G; Giordano, M

Carlomagno, Y; Salerno, M; Vivenza, D; Capalbo, D; Godi, M; Mellone, S; Tiradani, L; Corneli, G; Momigliano-Richiardi, P; Bona, G; Giordano, M.

Affiliation

Carlomagno Y; Laboratory of Human Genetics, Department of Medical Sciences, Eastern Piedmont University and Interdisciplinary Research Center on Autoimmune Diseases, 28100 Novara, Italy.

J Endocrinol Invest ; 32(8): 653-8, 2009 Sep.

Article in En | MEDLINE | ID: mdl-19498317

Subject(s)

Pituitary Hormones/deficiency; RNA Splicing; Transcription Factor Pit-1/genetics; Child; Consanguinity; Female; Gene Deletion; Human Growth Hormone/deficiency; Humans; Pedigree; Prolactin/blood

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pituitary Hormones / RNA Splicing / Transcription Factor Pit-1 Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Journal: J Endocrinol Invest Year: 2009 Type: Article Affiliation country: Italy

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