Literature DB >> 8911608

Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome.

R C Hennekam1, R J Gorlin.   

Abstract

The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.

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Year:  1996        PMID： 8911608     DOI： 10.1002/(SICI)1096-8628(19961016)65:2<146::AID-AJMG13>3.0.CO;2-Q

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

Review 1.  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

Review 2.  Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.

Authors:  Sida Huang; Jian Song; Chufeng He; Xinzhang Cai; Kai Yuan; Lingyun Mei; Yong Feng
Journal:  Gene Ther       Date:  2021-02-25       Impact factor: 4.184

3.  Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.

Authors:  Xiao-Wen Liu; Su-Yang Wang; Zhan-Kui Xing; Yi-Ming Zhu; Wen-Juan Ding; Lei Duan; Xiao Cui; Bai-Cheng Xu; Shu-Juan Li; Yu-Fen Guo
Journal:  J Int Med Res       Date:  2020-11       Impact factor: 1.671
  3 in total

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