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Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Babu, Deepak; Fanelli, Antonella; Mellone, Simona; Muniswamy, Ranjith; Wasniewska, Malgorzata; Prodam, Flavia; Petri, Antonella; Bellone, Simonetta; Salerno, Maria Carolina; Giordano, Mara.
Affiliation
  • Babu D; Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Fanelli A; Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Mellone S; Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Muniswamy R; Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Wasniewska M; Dipartimento di Patologia Umana dell'adulto e dell'età evolutiva "Gaetano Barresi", Università degli Studi di Messina, Messina, Italy.
  • Prodam F; Unit of Pediatrics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Petri A; Unit of Pediatrics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Bellone S; Unit of Pediatrics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Salerno MC; Pediatric Endocrine Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
  • Giordano M; Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Clin Endocrinol (Oxf) ; 90(3): 449-456, 2019 03.
Article in En | MEDLINE | ID: mdl-30548673
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Zinc Finger Protein Gli2 / Hypopituitarism Type of study: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Endocrinol (Oxf) Year: 2019 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Zinc Finger Protein Gli2 / Hypopituitarism Type of study: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Endocrinol (Oxf) Year: 2019 Type: Article Affiliation country: Italy