Original paper
Clue to a New Deafness Gene: A Large Chinese Nonsyndromic Hearing Loss Family Linked to DFNA4
Volume: 39, Issue: 12, Pages: 653 - 657
Published: Dec 1, 2012
Abstract
We present the case of a child with mild non-syndromic intellectual disability in whom array genomic hybridization revealed a de novo heterozygous deletion involving only one gene, FMN2. FMN2 encodes FORMIN-2, a member of the formin homology family, which is primarily expressed in the developing and mature brain, and has an important role in cytoskeletal organization and actin nucleation. A heterozygous deletion of FMN2 along with 2 other genes...
Paper Details
Title
Clue to a New Deafness Gene: A Large Chinese Nonsyndromic Hearing Loss Family Linked to DFNA4
Published Date
Dec 1, 2012
Volume
39
Issue
12
Pages
653 - 657
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Notes
History