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Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F)

Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an affected family from the historically isolated Arabian Peninsula. A child and her mother had central crystalline keratopathy consistent with...

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Bibliografski detalji
Glavni autori: Al-Ghadeer, Huda, Mohamed, Jawahir Y., Khan, Arif O.
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications 2011
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3085155/
https://ncbi.nlm.nih.gov/pubmed/21572737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0974-9233.75890
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