2023
DOI: 10.1093/ejendo/lvad129
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Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels

Luciana Montenegro,
Carlos Seraphim,
Flávia Tinano
et al.

Abstract: Background Several rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP). Objective We investigated genetic abnormalities of DLK1 gene in a French cohort of children with idiopathic CPP. Additionally, we explored the pattern of DLK1 serum levels in patients with CPP and in healthy children at puberty, as wel… Show more

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