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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |