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Article

Evidence of digenic inheritance in Alport syndrome.

Journal of medical genetics - 1 Mar 2015

Mencarelli Maria Antonietta, Heidet Laurence, Storey Helen, van Geel Michel, Knebelmann Bertrand, Fallerini Chiara, Miglietti Nunzia, Antonucci Maria Fatima, Cetta Francesco, Sayer John A, van den Wijngaard Arthur, Yau Shu, Mari Francesca, Bruttini Mirella, Ariani Francesca, Dahan Karin, Smeets Bert, Antignac Corinne, Flinter Frances, Renieri Alessandra

Abstract excerpt

BACKGROUND: Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendeli...

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Identifiers

PMID: 25575550
DOI: 10.1136/jmedgenet-2014-102822

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25575550-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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