Original paper
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
Abstract
Myhre syndrome is a rare autosomal dominant multisystemic disorder. Typical features of this disorder include distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, brachydactyly, and skeletal anomalies. Gain-of-function mutations in the <i>SMAD4</i> gene are responsible for this syndrome. Herein, we present a 9.6-year-old Turkish girl with molecularly confirmed Myhre syndrome...
Paper Details
Title
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
Published Date
Jan 1, 2019
Journal
Volume
10
Issue
6
Pages
339 - 343
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Notes
History