A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss

17p13 is a chromosomal region characterized by genomic instability due to high gene density leading to multiple deletion and duplication events. 17p13.3 microduplication syndrome is a rare condition, reported only in 40 cases worldwide, which is found in the Miller–Dieker chromosomal region, present...

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Detalles Bibliográficos
Autores principales: Vittas, Spiros, Bisba, Maria, Christopoulou, Georgia, Apostolakopoulou, Loukia, Pons, Roser, Constantoulakis, Pantelis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379727/
https://www.ncbi.nlm.nih.gov/pubmed/37510238
http://dx.doi.org/10.3390/genes14071333

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379727/
https://www.ncbi.nlm.nih.gov/pubmed/37510238
http://dx.doi.org/10.3390/genes14071333

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