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Expanding the etiology of oculo-auriculo-vertebral spectrum: a novel interstitial microdeletion at 1p36

Abstract: The etiology of oculo?auriculo?vertebral spectrum (OAVS) is not well established. About half of patients show a positive family history. The etiology of familiar cases is unclear but appears genetically heterogeneous. This motivated us to report a case of OAVS with microtia, ptosis, facial microsomy, and fusion of vertebral bodies associated with a novel genetic etiology, including a deletion at 1p36.12-13. This case report expands on the genetic etiology of OAVS. Furthermore, it also expands the clinical manifestations of patients with interstitial deletions of the de 1p36.12-13 region.

 Fuente: International Journal of Molecular Sciences 2023, 24, 36

 Editorial: MDPI

 Año de publicación: 2022

 Nº de páginas: 8

 Tipo de publicación: Artículo de Revista

 DOI: 10.3390/ijms24010036

 ISSN: 1661-6596,1422-0067

Autoría

GARCÍA-CASTRO, MÓNICA

MARTÍNEZ-MERINO, TERESA