Kidney failure in Townes–Brocks syndrome: An under recognized phenomenon?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference18 articles.
1. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome
2. Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
3. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
4. Townes—Brocks syndrome in two mentally retarded youngsters
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1. Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing;Kidney International Reports;2024-06
2. Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort;Journal of Medical Genetics;2024-01-31
3. Autosomal dominant tubulointerstitial kidney disease: A review;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-09
4. Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases;Kidney International;2022-08
5. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β;Pediatric Nephrology;2021-05-22
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