Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies

Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies

Abstract Hearing loss frequently occurs in Noonan syndrome and related RASopathies (NS-RAS), with conductive hearing loss being common. However, the genotypic and phenotypic features of sensorineural hearing loss (SNHL) in NS-RAS, as well as genotype-phenotype correlations, remain unknown. Leveragin...

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Bibliographic Details
Main Authors: Seung Jae Lee, Sohyang Jeong, Somin Lee, Seong Ho Jung, Myung-Whan Suh, Jae-Jin Song, Jun Ho Lee, Jung Min Ko, Moo Kyun Park, Sang-Yeon Lee
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
Subjects:
Sensorineural hearing loss
Noonan syndrome
RASopathies
PTPN11
Genotype-phenotype correlation
Online Access:https://doi.org/10.1038/s41598-025-90635-7
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