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DFN3

Deafness, X-Linked 2DFNX2Gusher syndromeX-Linked Deafness Mixed with Perilymphatic Gusher
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "DFN3" returned 0 free, full-text review articles. First 0 results:
No publications were found for this category.
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "DFN3" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "DFN3" returned 2 free, full-text research articles. First 2 results:
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.
Last Updated: Nov 16, 2017

X-linked deafness type 3 (DFN3), the most prevalent X-linked form of hereditary deafness, is caused by mutations of the POU3F4 locus in the Xq21 region. We evaluated two Korean families showing typical characteristics of DFN3, such as congenital hearing loss and pathognomonic inner ...

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
Last Updated: Nov 09, 2009

X-linked deafness type 3 (DFN3), the most prevalent X-linked form of hereditary deafness, is caused by mutations in the POU3F4 locus, which encodes a member of the POU family of transcription factors. Despite numerous reports on clinical evaluations and genetic analyses describing ...

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2 Free Research Articles 15 Research Articles