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Case Reports
. 2023 Jan;36(1):233-235.
doi: 10.1007/s40620-022-01383-0. Epub 2022 Jul 1.

A case of renal coloboma syndrome

Shiva Kumar Ammayappan  1 , Arul Rajagopalan  2 , Jegan Arunachalam  2 , Arun Prasath  2 , Rakesh Durai  2
Affiliations
Case Reports

A case of renal coloboma syndrome

Shiva Kumar Ammayappan et al. J Nephrol. 2023 Jan.
No abstract available

Keywords: Morning glory syndrome; PAX2; Renal coloboma syndrome; VUR.

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References

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    1. Schimmenti LA (2011) Renal coloboma syndrome. Eur J Human Genetics EJHG 19(12):1207–1212. https://doi.org/10.1038/ejhg.2011.102 - DOI
    1. Schimmenti LA, Cunliffe HE, McNoe LA et al (1997) Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet 60:869–878
    1. Rachwani Anil R, Rocha-de-Lossada C, Ayala CH, Contreras ME (2019) A new mutation in the PAX2 gene in a Papillorenal Syndrome patient. Am J Ophthalmol Case Rep 11(16):100563. https://doi.org/10.1016/j.ajoc.2019.100563 (PMID:31692565; PMCID:PMC6806373) - DOI
    1. Okumura T, Furuichi K, Higashide T et al (2015) Association of PAX2 and other gene mutations with the clinical manifestations of renal coloboma syndrome. PLoS One 10(11):9–11 - DOI

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