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Article

Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.

European journal of endocrinology - 27 Mar 2025

Rezende Raíssa C, He Wen, Kaisinger Lena R, Lerario Antonio M, Schafer Evan C, Kentistou Katherine A, Barroso Priscila S, Andrade Nathalia L M, Dantas Naiara C B, Costa Elaine Maria F, Cellin Laurana P, P S Quedas Elisangela, Seminara Stephanie B, Rey Rodolfo A, Grinspon Romina P, Meriq Veronica, Ong Ken K, Latronico Ana Claudia, Perry John R B, Howard Sasha R, Chan Yee-Ming, Jorge Alexander A L

Abstract excerpt

OBJECTIVE: Self-limited delayed puberty (SLDP) is the most common cause of delayed puberty and exhibits high heritability, although few causal genes have been identified. This study aims to identify potential candidate genes associated with SLDP. METHODS: Whole-exome sequencing was conducted in 71 children with SLDP, most of whom presented with short stature. Rare coding variants were prioritized through...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40193575
DOI: 10.1093/ejendo/lvaf061
PMCID: PMC12013340

Genes

INHBB
ARID3B
CDK13
DPF2
FNBP1
GDF5
GHSR
GPS1
KMT2C
MC3R
NAMPT
NASP
PRDM2
SP3
TP63
TYMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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