Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome

Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is a complex imprinting disorder related to genomic errors that inactivate paternally-inherited genes on chromosome 15q11-q13 with severe implications on endocrine, cognitive and neurologic systems, metabolism, and behavior. The absence of expression of one or more genes...

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Bibliographic Details
Main Authors: Régis Afonso Costa, Igor Ribeiro Ferreira, Hiago Azevedo Cintra, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-12-01
Series:Frontiers in Endocrinology
Subjects:
Prader-Willi syndrome
genotype
phenotype
endocrine
imprinting
SNORDs
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2019.00864/full

Internet

https://www.frontiersin.org/article/10.3389/fendo.2019.00864/full

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