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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...

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Bibliografiske detaljer
Udgivet i:Mol Cell Pediatr
Main Authors: Zorn, Stefanie, von Schnurbein, Julia, Kohlsdorf, Katja, Denzer, Christian, Wabitsch, Martin
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7606406/
https://ncbi.nlm.nih.gov/pubmed/33140236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40348-020-00107-3
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