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Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome

Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation...

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Detalhes bibliográficos
Main Authors: Yun, Jae Won, Cho, Hyun-Kyung, Oh, Soo-Young, Ki, Chang-Seok, Kee, Changwon
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3756242/
https://ncbi.nlm.nih.gov/pubmed/24003428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2013.33.5.360
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