A surviving case of papillorenal syndrome with the phenotype of Potter sequence.
作者信息
Fujioka Kazumichi, Morioka Ichiro, Nozu Kandai, Nishimoto Masashi, Amano Mariko, Tagami Mizuki, Honda Shigeru, Yokoyama Naoki, Yamada Hideto, Iijima Kazumoto, Matsuo Masafumi
机构信息
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
出版信息
Pediatr Int. 2011 Jun;53(3):406-8. doi: 10.1111/j.1442-200X.2010.03261.x.
Abstract
摘要
相似文献
1
A surviving case of papillorenal syndrome with the phenotype of Potter sequence.
Pediatr Int. 2011 Jun;53(3):406-8. doi: 10.1111/j.1442-200X.2010.03261.x.
2
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.
Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.16. Epub 2011 Feb 16.
3
[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):847-850. doi: 10.3760/cma.j.issn.1003-9406.2020.08.010.
4
Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.
Am J Med Genet A. 2012 Jun;158A(6):1437-41. doi: 10.1002/ajmg.a.35342. Epub 2012 May 11.
5
Renal coloboma syndrome.
Eur J Hum Genet. 2011 Dec;19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8.
6
Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26).
Genet Couns. 2013;24(2):201-5.
7
Papillorenal syndrome in a family with unusual complications.
Br J Ophthalmol. 2013 Jul;97(7):945-6. doi: 10.1136/bjophthalmol-2013-303122. Epub 2013 May 18.
8
New ocular phenotype associated with a mutation in the PAX2 gene.
Eye (Lond). 2010 Jul;24(7):1293-4. doi: 10.1038/eye.2009.330. Epub 2010 Jan 15.
9
Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication.
Gene. 2018 Jan 30;641:74-77. doi: 10.1016/j.gene.2017.10.050. Epub 2017 Oct 18.
10
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.
Pediatr Nephrol. 2012 Oct;27(10):1989-93. doi: 10.1007/s00467-012-2205-x. Epub 2012 Jun 4.
引用本文的文献
1
A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.
Mol Genet Genomic Med. 2025 Jun;13(6):e70113. doi: 10.1002/mgg3.70113.
2
Elective Cesarean Section during Preterm Prevents Pulmonary Hypoplasia Development in Potter Sequence.
Case Rep Pediatr. 2023 Jan 31;2023:3216232. doi: 10.1155/2023/3216232. eCollection 2023.
3
Resolving severe oligohydramnios as an early prenatal presentation of renal coloboma syndrome-A report of two generations.
Clin Case Rep. 2021 Sep 7;9(9):e04758. doi: 10.1002/ccr3.4758. eCollection 2021 Sep.
4
Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence.
Case Rep Ophthalmol. 2010 Nov 29;1(2):94-98. doi: 10.1159/000321625.
Zotero 插件