New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3

New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3

Alport syndrome (AS) is a clinically and genetically heterogeneous disorder with a wide phenotypic spectrum, onset, and progression. X-linked AS (XLAS) and autosomal recessive AS (ARAS) are severe conditions, whereas the severity of autosomal dominant AS (ADAS) may vary from benign familial hematuri...

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Bibliographic Details
Main Authors: José María García-Aznar, Luis De la Higuera, Lara Besada Cerecedo, Nerea Paz Gandiaga, Ana Isabel Vega, Gema Fernández-Fresnedo, Domingo González-Lamuño
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Journal of Clinical Medicine
Subjects:
Alport syndrome
autosomal dominant inheritance
ESKD
COL4A3
COL4A4
Online Access:https://www.mdpi.com/2077-0383/11/16/4883

Internet

https://www.mdpi.com/2077-0383/11/16/4883

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