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Article

Undiagnosed RASopathies in infertile men.

Frontiers in endocrinology - 1 Jan 2024

Juchnewitsch Anna-Grete, Pomm Kristjan, Dutta Avirup, Tamp Erik, Valkna Anu, Lillepea Kristiina, Mahyari Eisa, Tjagur Stanislav, Belova Galina, Kübarsepp Viljo, Castillo-Madeen Helen, Riera-Escamilla Antoni, Põlluaas Lisanna, Nagirnaja Liina, Poolamets Olev, Vihljajev Vladimir, Sütt Mailis, Versbraegen Nassim, Papadimitriou Sofia, McLachlan Robert I, Jarvi Keith A, Schlegel Peter N, Tennisberg Sven, Korrovits Paul, Vigh-Conrad Katinka, O'Bryan Moira K, Aston Kenneth I, Lenaerts Tom, Conrad Donald F, Kasak Laura, Punab Margus, Laan Maris

Abstract excerpt

RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic features, including cryptorchidism (CR) in >50% of affected men. As CR predisposes to spermatogenic failure (SPGF; total sperm count per ejaculate 0-39 million), we...

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Source

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Identifiers

PMID: 38654924
DOI: 10.3389/fendo.2024.1312357
PMCID: PMC11035881

Genes

LZTR1
PTPN11
MAP2K1
MRAS
NF1
SOS1
SOS2
SPRED1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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