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...

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Detalles Bibliográficos
Autores principales: Zorn, Stefanie, von Schnurbein, Julia, Kohlsdorf, Katja, Denzer, Christian, Wabitsch, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Case Study
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

Internet

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

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