A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan

Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along...

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Bibliografiska uppgifter
I publikationen:Cureus
Huvudupphovsmän: Nusrat, Maira, Tariq, Muhammad Ali, Aslam, Saher, Zil-E-Ali, Ahsan, Shahid, Marwah, Mahmood, Shafaq
Materialtyp: Artigo
Språk:Inglês
Publicerad: Cureus 2018
Ämnen:
Genetics
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6188159/
https://ncbi.nlm.nih.gov/pubmed/30345200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.3143
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