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Article

Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.

Advances in experimental medicine and biology - 1 Jan 2014

Jonsson Frida, Burstedt Marie S, Sandgren Ola, Norberg Anna, Golovleva Irina

Abstract excerpt

Genetic mechanisms underlying severe retinal dystrophy in a large Swedish family presenting two distinct phenotypes, Leber congenital amaurosis and Stargardt disease were investigated. In the family, four patients with Leber congenital amaurosis were homozygous for a novel c.2557C>T (p.Q853X) mut...

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Source

Identifiers

PMID: 24664696
DOI: 10.1007/978-1-4614-3209-8_23

Genes

ABCA4
CRB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24664696-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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