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Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations

BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologi...

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Опубликовано в: :AJNR Am J Neuroradiol
Главные авторы: Elmaleh-Bergès, M., Baumann, C., Noël-Pétroff, N., Sekkal, A., Couloigner, V., Devriendt, K., Wilson, M., Marlin, S., Sebag, G., Pingault, V.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society of Neuroradiology 2013
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7964579/
https://ncbi.nlm.nih.gov/pubmed/23237859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3174/ajnr.A3367
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