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Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency
BACKGROUND: Rare genetic variations in the leptin-melanocortin signalling pathway can severely impair appetite regulation and cause extreme obesity in early childhood. CASE PRESENTATION: Our case reports describe the diagnostic and therapeutic procedures in a girl as well as in a non-related boy of...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606406/ https://www.ncbi.nlm.nih.gov/pubmed/33140236 http://dx.doi.org/10.1186/s40348-020-00107-3 |