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A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred
Waardenburg syndrome (WS) is a rare genetic disorder characterized by abnormal pigmentation of the hair, skin, and iris as well as sensorineural hearing loss. WS is subdivided into 4 major types (WS1–4), where WS2 is characterized by the absence of dystopia canthorum. This study was launched to inve...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5498936/ https://ncbi.nlm.nih.gov/pubmed/28690485 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000476020 |
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