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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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Pediatric Endocrinology and Diabetes Society
2023-06-01
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| Edice: | JCRPE |
| Témata: | |
| On-line přístup: | https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04274&look4= |
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