X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

We report a large two-generation pedigree with seven affected males segregating for an X-linked mixed conductive sensorineural deafness. The patients present with atypical Mondini-like dysplasia, dilated petrous facial canal, dilatation of the internal auditory meatus fully connected with enlarged c...

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Библиографические подробности
Главные авторы: Piussan, C, Hanauer, A, Dahl, N, Mathieu, M, Kolski, C, Biancalana, V, Heyberger, S, Strunski, V
Формат: Artigo
Язык:Inglês
Опубликовано: 1995
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801308/
https://ncbi.nlm.nih.gov/pubmed/7825582
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