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An Adult Goldenhar Syndrome Patient With a Mosaic Small Su-Pernumerary Marker Chromosome (sSMC) Identified As Ring Chromosome 19

2024-08-20

Abstract excerpt

Goldenhar Syndrome (GS), also known as oculoauriculovertebral spectrum (OVAS), is a rare congenital condition characterized by impaired development of structures such as ears, eyes, nose, palate, lip, mandible, maxilla, and teeth. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors, yet the syndrome has many unknowns. We report a case of a 31-year-old male diagnosed clinically...

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Literature Corpus work: da72e345-732f-506e-a42f-debe48319d12
DOI: 10.20944/preprints202408.1349.v1

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