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X-linked Deafness-2 (DFNX2) Phenotype Associated with a Paracentric Inversion Upstream of POU3F4
PURPOSE: The authors report a seven-year-old male, designated FR, with severe sensorineural hearing loss. Features include round face, hypertelorism, epicanthal folds, and flat nasal root. Although there were early developmental concerns, all but his speech delay resolved when he was placed in an ed...
Tallennettuna:
| Julkaisussa: | Am J Audiol |
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| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4644427/ https://ncbi.nlm.nih.gov/pubmed/24096866 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1044/1059-0889(2013/13-0018) |
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