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Article

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

International journal of molecular sciences - 25 Feb 2024

Plaisancié Julie, Chesneau Bertrand, Fares-Taie Lucas, Rozet Jean-Michel, Pechmeja Jacmine, Noero Julien, Gaston Véronique, Bailleul-Forestier Isabelle, Calvas Patrick, Chassaing Nicolas

Abstract excerpt

Ocular malformations (OMs) arise from early defects during embryonic eye development. Despite the identification of over 100 genes linked to this heterogeneous group of disorders, the genetic cause remains unknown for half of the individuals following Whole-Exome Sequencing. Diagnosis procedures are further hampered by the difficulty of studying samples from clinically relevant tissue, which is one of the main...

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Identifiers

PMID: 38473917
DOI: 10.3390/ijms25052669
PMCID: PMC10931988

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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