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Article

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

American journal of human genetics - 3 Mar 2022

Cornelis Stéphanie S, Runhart Esmee H, Bauwens Miriam, Corradi Zelia, De Baere Elfride, Roosing Susanne, Haer-Wigman Lonneke, Dhaenens Claire-Marie, Vulto-van Silfhout Anneke T, Cremers Frans P M

Abstract excerpt

Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population frequencies and penetrances are unknown. An example of this is Stargardt disease (STGD1), a frequent recessive retinal disease caused by bi-allelic pathogenic variants in ABCA4. In this cross-sectional study, 1,619 ABCA4 variants from 5,579 individuals with STGD1 were collected and...

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Identifiers

PMID: 35120629
DOI: 10.1016/j.ajhg.2022.01.008
PMCID: PMC8948157

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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