Papillorenal syndrome

Schimmenti LA et al. (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Cunliffe HE et al. (1998) The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

None (1977) [On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)].

None (1979) [The morning glory syndrome].

None (1970) Morning glory syndrome: unusual congenital optic disk anomaly.

Bron AJ et al. (1989) Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature.

None (2011) Renal coloboma syndrome.

Parsa CF et al. (2001) Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

Eccles MR et al. (1999) Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

Sanyanusin P et al. (1995) Mutation of PAX2 in two siblings with renal-coloboma syndrome.

Schimmenti LA et al. (1995) Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Sanyanusin P et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

Weaver RG et al. (1988) Optic nerve coloboma associated with renal disease.

Bower M et al. (2012) Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Martinovic-Bouriel J et al. (2010) PAX2 mutations in fetal renal hypodysplasia.

Higashide T et al. (2005) Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

Chung GW et al. (2001) Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

Nishimoto K et al. (2001) PAX2 gene mutation in a family with isolated renal hypoplasia.

Ford B et al. (2001) Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

Amiel J et al. (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.

OMIM.ORG article

Wikipedia article