Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency

Prolyl endopeptidase-like (PREPL) deficiency (MIM#616224) is a rare congenital disorder characterised by neonatal hypotonia and feeding difficulties, growth hormone (GH) deficiency and hypergonadotropic hypogonadism. This syndrome is an autosomal recessive disease resulting from mutations in the PRE...

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Detalles Bibliográficos
Autores principales: Sayol-Torres, Laura, Valenzuela, Maria Irene, Tomasini, Rosangela, Fernández-Alvarez, Paula, Clemente, Maria, Yeste, Diego
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234053/
https://www.ncbi.nlm.nih.gov/pubmed/34693706
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234053/
https://www.ncbi.nlm.nih.gov/pubmed/34693706
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0128

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