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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(1), 36
Publisher: MDPI
Year of publication: 2023
No. of pages: 8
Publication type: Article
DOI: 10.3390/ijms24010036
ISSN: 1661-6596,1422-0067
Publication Url: https://doi.org/10.3390/ijms24010036
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GARCÍA-CASTRO, MÓNICA
MARTÍNEZ-MERINO, TERESA
PUENTE, NURIA
JOSE ANTONIO RIANCHO MORAL
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