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Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

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Microtia is a congenital malformation of the external ear and may occur as an isolated deformity or as part of a syndrome. Our previous study found a high correlation between… Click to show full abstract

Microtia is a congenital malformation of the external ear and may occur as an isolated deformity or as part of a syndrome. Our previous study found a high correlation between microtia and thoracic deformities, thus, we propose that external ear and thorax development may be regulated by certain genes in common.

Keywords: exome sequencing; thoracic deformities; microtia thoracic; sequencing analysis; whole exome

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021

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