Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.

doi:10.1038/s41598-023-34053-7

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Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.

Scientific reports - 26 Apr 2023

Kim Ji Hyun, Lim Seon Hee, Song Ji Yeon, Cho Myung Hyun, Hyun HyeSun, Yang Eun Mi, Lee Jung Won, Cho Min Hyun, Park Min Ji, Lee Joo Hoon, Jung Jiwon, Yoo Kee Hwan, Jang Kyung Mi, Pai Ki Soo, Suh Jin-Soon, Namgoong Mee Kyung, Chung Woo Yeong, Kim Su Jin, Cho Eun Young, Kim Kyung Min, Kim Nam Hee, Kim Minsun, Paik Jin Ho, Kang Hee Gyung, Ahn Yo Han, Cheong Hae Il

Abstract excerpt

The genotype-phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype-phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group,...

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PMID: 37100867
DOI: 10.1038/s41598-023-34053-7
PMCID: PMC10133262

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