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dc.contributor.author
Domene, Sabina  
dc.contributor.author
Domene, Horacio Mario  
dc.date.available
2020-01-07T15:49:10Z  
dc.date.issued
2018-09  
dc.identifier.citation
Domene, Sabina; Domene, Horacio Mario; Genetic Mutations in the GH/IGF Axis; Medical Media; Pediatric Endocrinology Reviews; 16; Supl.1; 9-2018; 82-105  
dc.identifier.issn
1565-4753  
dc.identifier.uri
http://hdl.handle.net/11336/93773  
dc.description.abstract
The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the GH/IGF axis resulting in short stature were arbitrarily classified into 4 groups: 1. Combined pituitary hormone deficiency (CPHD) (a. syndromic CPHD and b. non-syndromic CPHD), 2. Isolated GH deficiency (IGHD), 3. GH insensitivity, and 4. IGF-I insensitivity. Genetic diagnosis is obtained in about 30-40% of children with growth retardation, severe IGHD, CPHD, apparent GH or IGF-I insensitivity, and small for gestational age. Increased accessibility to next generation sequencing (NGS) techniques resulted in a significant number of likely pathogenic variants in genes previously associated with short stature as well as in completely novel genes. Functional in vitro assays and in vivo animal models are required to determine the real contribution of these findings.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Medical Media  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
COMBINED PITUITARY HORMONE DEFICIENCY  
dc.subject
GENETIC DEFECTS  
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GH INSENSITIVITY  
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IGF-I INSENSITIVITY  
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ISOLATED GH DEFICIENCY  
dc.subject.classification
Genética Humana  
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Medicina Básica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Genetic Mutations in the GH/IGF Axis  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2019-10-16T15:10:48Z  
dc.journal.volume
16  
dc.journal.number
Supl.1  
dc.journal.pagination
82-105  
dc.journal.pais
Israel  
dc.description.fil
Fil: Domene, Sabina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina  
dc.description.fil
Fil: Domene, Horacio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina  
dc.journal.title
Pediatric Endocrinology Reviews  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.17458/per.vol16.2018.dd.geneticmutationsghigf  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.pediatricendoreviews.com/volume-16-sup-1-2018