Literature DB >> 11702731

Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation.

A Müllner-Eidenböck, E Moser, H Frisch, A P Read.   

Abstract

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Year:  2001        PMID： 11702731      PMCID： PMC1723753          DOI： 10.1136/bjo.85.11.1384

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  5 in total

1.  Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

Authors:  Ali Akal; Tugba Göncü; Nurefsan Boyaci; Ömer Faruk Yılmaz
Journal:  BMJ Case Rep       Date:  2013-12-18

2.  A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.

Authors:  Nazanin Jalilian; Mohammad A Tabatabaiefar; Tayyeb Bahrami; Golaleh Karbasi; Mohammad H Bahramian; Abdolrahman Salimpoor; Mohammad R Noori-Daloii
Journal:  Mol Syndromol       Date:  2017-05-30

Review 3.  Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.

Authors:  Magella M Neveu; Srikanta Kumar Padhy; Srishti Ramamurthy; Brijesh Takkar; Subhadra Jalali; Deepika Cp; Tapas Ranjan Padhi; Anthony G Robson
Journal:  Clin Ophthalmol       Date:  2022-05-24

4.  Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.

Authors:  Li Zhang; Yue Wan; Ningli Wang
Journal:  J Med Case Rep       Date:  2022-07-06

5.  The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function.

Authors:  Andrea García-Llorca; Snaefridur Gudmundsdottir Aspelund; Margret Helga Ogmundsdottir; Eiríkur Steingrimsson; Thor Eysteinsson
Journal:  Sci Rep       Date:  2019-10-28       Impact factor: 4.379
  5 in total

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