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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Detalles Bibliográficos
Autores principales: Yun, Jae Won, Cho, Hyun-Kyung, Oh, Soo-Young, Ki, Chang-Seok, Kee, Changwon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756242/
https://www.ncbi.nlm.nih.gov/pubmed/24003428
http://dx.doi.org/10.3343/alm.2013.33.5.360

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