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Article

Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype.

International journal of molecular sciences - 17 Jul 2022

Fardeau Christine, Alafaleq Munirah, Ferchaud Marie-Adélaïde, Hié Miguel, Besnard Caroline, Meynier Sonia, Rieux-Laucat Frédéric, Roos-Weil Damien, Cohen Fleur, Meunier Isabelle

Abstract excerpt

This article describes the ocular phenotype associated with the identified Casitas B-lineage lymphoma (CBL) gene mutation and reviews the current literature. This work also includes the longitudinal follow-up of five unrelated cases of unexplained fundus lesions with visual loss associated with a history of hepatosplenomegaly. Wide repeated workup was made to rule out infections, inflammatory diseases, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35887217
DOI: 10.3390/ijms23147868
PMCID: PMC9318494

Provenance

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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