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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Bibliografiska uppgifter
Huvudupphovsmän: Laura Sayol-Torres, Maria Irene Valenzuela, Rosangela Tomasini, Paula Fernández-Alvarez, Maria Clemente, Diego Yeste
Materialtyp: Artigo
Språk:Inglês
Publicerad: Pediatric Endocrinology and Diabetes Society 2023-06-01
Serie:JCRPE
Ämnen:
prolyl endopeptidase-like
growth hormone deficiency
genetics
Länkar:https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04274&look4=
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