Familial idiopathic short stature and beyond: a case-report of a novel heterozygous NPR2 mutation.
Background: NPR2 gene encodes for B-type natriuretic peptide receptor (NPR-B), a positive regulator of the growth plate. Recently, heterozygous NPR2 mutations were reported in 2–6% cases of idiopathic short stature (ISS) and 13.6% of familial ISS. Case report: A 9-years-old boy was referred to ou...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Accademia Peloritana dei Pericolanti
2024-07-01
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| Series: | Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche |
| Subjects: | |
| Online Access: | https://cab.unime.it/journals/index.php/APMB/article/view/4296 |
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