@article{10902/28203,
year = {2022},
url = {https://hdl.handle.net/10902/28203},
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.},
publisher = {MDPI},
publisher = {International Journal of Molecular Sciences 2023, 24, 36},
title = {Expanding the etiology of oculo-auriculo-vertebral spectrum: a novel interstitial microdeletion at 1p36},
author = {García-Castro, Mónica and Martínez-Merino, Teresa and Puente, Nuria and Riancho Moral, José Antonio},
}