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The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis.

Genes - 1 Nov 2024

Farina Juan M, Olson Rory J, Dhamija Radhika, Bofferding Anne, Sekulic Aleksandar, Egan Jan B, Jaroszewski Dawn E

Abstract excerpt

Background/Objectives: Pectus excavatum (PEx) is considered, at least partially, a familial disorder. A variety of inheritance patterns, associations with genetic syndromes, and pathogenic variants have been reported. However, the etiology of this condition is still not completely understood, and no known genes have been identified as definitive contributors. Methods: Family members with a confirmed PEx diagnosis...

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Adolescent
Child
Exome
Exome Sequencing
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genital Health and Disease

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PMID: 39596629
DOI: 10.3390/genes15111429
PMCID: PMC11593651

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