Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort-Reference-Cited by-同舟云学术

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort

Published:2015-08-06 Issue:6 Volume:83 Page:849-860
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

De Rienzo Francesca¹,Mellone Simona²,Bellone Simonetta¹,Babu Deepak²,Fusco Ileana²,Prodam Flavia¹,Petri Antonella¹,Muniswamy Ranjith²,De Luca Filippo³,Salerno Mariacarolina⁴,Momigliano-Richardi Patricia²,Bona Gianni¹,Giordano Mara²,

Affiliation:

1. Unit of Paediatrics; Department of Health Sciences; University of Eastern Piedmont; Novara Italy

2. Laboratory of Genetics; Department of Health Sciences; University of Eastern Piedmont and IRCAD; Novara Italy

3. Department of Paediatrics; University of Messina; Messina Italy

4. Paediatric Section; Department of Translational Medical Sciences; Federico II University; Naples Italy

Funder

Eastern Piedmont University, the ‘Cariplo’ Foundation

Pfizer

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference51 articles.

1. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement;Moher;PLoS Medicine,2009

2. Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency;Paracchini;Clinical Genetics,2003

3. A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency;Carlomagno;Journal of Endocrinological Investigation,2009

4. Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia;Corneli;Journal of Endocrinological Investigation,2008

5. Growth charts for children with Down syndrome: 1 month to 18 years of age;Cronk;Paediatrics,1988

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