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Article

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Clinical genetics - 1 Oct 2024

Lecca Mauro, Mauri Lucia, Gana Simone, Del Longo Alessandra, Morelli Federica, Nicotra Roberta, Plumari Massimo, Galli Jessica, Sirchia Fabio, Valente Enza Maria, Cavallari Ugo, Mazza Marco, Signorini Sabrina, Errichiello Edoardo

Abstract excerpt

The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS panels, whereas exome sequencing (ES) has occasionally been employed. In this multicentre study, we investigated by ES the detection yield, mutational spectrum and genotype-phenotype correlations in a CC cohort recruited between 2020 and mid-2022. The cohort consisted of 67 affected individuals from 51 unrelated families and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38840272
DOI: 10.1111/cge.14568

Genes

KIF1A
PAX6
SPTAN1
BCOR
CWC27
IFIH1
MAF
NHS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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