Literature DB >> 21358185

Pigmentary anomalies and hearing loss.

Helga V Toriello1.   

Abstract

A number of syndromes that include hearing loss in the phenotype also have pigmentary anomalies as a component manifestation. One of the most common of these is Waardenburg syndrome, which includes hypopigmentation and sensorineural hearing loss in the phenotype. There are four types of Waardenburg syndrome, distinguishable from each other by clinical findings. However, there are several other syndromes which include not only hypopigmentation, but also hyperpigmentation in the phenotype. This paper serves as a review of many of these syndromes.
Copyright © 2011 S. Karger AG, Basel.

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Year:  2011        PMID: 21358185     DOI: 10.1159/000322471

Source DB:  PubMed          Journal:  Adv Otorhinolaryngol        ISSN: 0065-3071


  8 in total

1.  Association of skin color, race/ethnicity, and hearing loss among adults in the USA.

Authors:  Frank R Lin; Paige Maas; Wade Chien; John P Carey; Luigi Ferrucci; Roland Thorpe
Journal:  J Assoc Res Otolaryngol       Date:  2011-11-29

Review 2.  The etiology and molecular genetics of human pigmentation disorders.

Authors:  Laura L Baxter; William J Pavan
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2012-05-17       Impact factor: 5.814

3.  A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

Authors:  Xiong Wang; Yaowu Zhu; Na Shen; Jing Peng; Chunyu Wang; Haiyi Liu; Yanjun Lu
Journal:  Sci Rep       Date:  2017-01-27       Impact factor: 4.379

Review 4.  Recent advances in the regulation mechanism of SOX10.

Authors:  Jingcui Qi; Long Ma; Weiwei Guo
Journal:  J Otol       Date:  2022-08-29

5.  Melanosomal dynamics assessed with a live-cell fluorescent melanosomal marker.

Authors:  Jan M Bruder; Zachary A Pfeiffer; Jonathan M Ciriello; Diana M Horrigan; Nadine L Wicks; Benjamin Flaherty; Elena Oancea
Journal:  PLoS One       Date:  2012-08-22       Impact factor: 3.240

6.  Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.

Authors:  Lianhua Sun; Xiaohua Li; Jun Shi; Xiuhong Pang; Yechen Hu; Xiaowen Wang; Hao Wu; Tao Yang
Journal:  Sci Rep       Date:  2016-10-19       Impact factor: 4.379

7.  Cochlear morphology in the developing inner ear of the porcine model of spontaneous deafness.

Authors:  Wei Chen; Qing-Qing Hao; Li-Li Ren; Wei Ren; Hui-Sang Lin; Wei-Wei Guo; Shi-Ming Yang
Journal:  BMC Neurosci       Date:  2018-05-02       Impact factor: 3.288

8.  High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.

Authors:  Sen Zhang; Hongen Xu; Yongan Tian; Danhua Liu; Xinyue Hou; Beiping Zeng; Bei Chen; Huanfei Liu; Ruijun Li; Xiaohua Li; Bin Zuo; Ryan Tang; Wenxue Tang
Journal:  Front Genet       Date:  2021-06-04       Impact factor: 4.599

  8 in total

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