Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency

• Main Authors: Laura Sayol-Torres (Author), Maria Irene Valenzuela (Author), Rosangela Tomasini (Author), Paula Fernández-Alvarez (Author), Maria Clemente (Author), Diego Yeste (Author)
• Format: Book
• Published: Galenos Yayincilik, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...