Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MTS is caused by pathogenic variants in the TIMM8A gene, including gene deletions and larger...

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Detalles Bibliográficos
Autores principales: Rendtorff, Nanna Dahl, Karstensen, Helena Gásdal, Lodahl, Marianne, Tolmie, John, McWilliam, Catherine, Bak, Mads, Tommerup, Niels, Nazaryan-Petersen, Lusine, Kunst, Henricus, Wong, Melanie, Joss, Shelagh, Carelli, Valerio, Tranebjærg, Lisbeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9440042/
https://www.ncbi.nlm.nih.gov/pubmed/36056138
http://dx.doi.org/10.1038/s41598-022-18040-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9440042/
https://www.ncbi.nlm.nih.gov/pubmed/36056138
http://dx.doi.org/10.1038/s41598-022-18040-y

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