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Article

Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.

European journal of human genetics : EJHG - 1 Oct 2024

Atique Tacla Milena, de Mello Copelli Matheus, Pairet Eleonore, Monlleó Isabella Lopes, Ribeiro Erlane Marques, Lustosa Mendes Elaine, Helaers Raphaël, Vieira Tarsis Paiva, Vikkula Miikka, Gil-da-Silva-Lopes Vera Lúcia

Abstract excerpt

This study describes genomic findings among individuals with both orofacial clefts (OC) and microphthalmia/anophthalmia/coloboma (MAC) recorded in the Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) and Whole Exome Sequencing (WES) were performed in 17 individuals with OC-MAC. Clinical interpretation of molecular findings was based on data available at the BDCA and on...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37932364
DOI: 10.1038/s41431-023-01488-5
PMCID: PMC11499658

Genes

CHD7
POMT1
DYNC2H1
INTU
KIAA0586
KIF7
LMNA
PTPN11
RPGRIP1L
TFAP2A
TP63

Provenance

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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