A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation

Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and...

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Detalles Bibliográficos
Autores principales: Adam, Jennifer, Browning, Andrew C., Vaideanu, Daniela, Heidet, Laurence, Goodship, Judith A., Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898336/
https://www.ncbi.nlm.nih.gov/pubmed/27293569
http://dx.doi.org/10.1093/ckj/sft058

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