Expanding the Etiology of Oculo–Auriculo–Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36

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...

Descripción completa

Detalles Bibliográficos
Autores principales: García-Castro, Mónica, Martinez-Merino, Teresa, Puente, Nuria, Riancho, José A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820115/
https://www.ncbi.nlm.nih.gov/pubmed/36613479
http://dx.doi.org/10.3390/ijms24010036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820115/
https://www.ncbi.nlm.nih.gov/pubmed/36613479
http://dx.doi.org/10.3390/ijms24010036

Ejemplares similares