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...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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Pediatric Endocrinology and Diabetes Society
2023-06-01
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| Saila: | JCRPE |
| Gaiak: | |
| Sarrera elektronikoa: | https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04274&look4= |
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