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

Babu, Deepak; Fanelli, Antonella; Mellone, Simona; Muniswamy, Ranjith; Wasniewska, Malgorzata; Prodam, Flavia; Petri, Antonella; Bellone, Simonetta; Salerno, Maria Carolina; Giordano, Mara.

Afiliación

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 en En | MEDLINE | ID: mdl-30548673

Asunto(s)

Hipopituitarismo/genética; Proteínas Nucleares/genética; Proteína Gli2 con Dedos de Zinc/genética; Adolescente; Niño; Preescolar; Estudios de Cohortes; Femenino; Humanos; Masculino; Mutación Missense

Palabras clave

CPHD; GLI2 gene

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Proteína Gli2 con Dedos de Zinc / Hipopituitarismo Tipo de estudio: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Endocrinol (Oxf) Año: 2019 Tipo del documento: Article País de afiliación: Italia

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