Renal-coloboma syndrome: report of a novel PAX2 gene mutation

2001 ◽  
Vol 132 (6) ◽  
pp. 910-914 ◽  
Author(s):  
Gary W. Chung ◽  
Albert O. Edwards ◽  
Lisa A. SchimentiI ◽  
Glenda S. Manligas ◽  
Yao-hua Zhang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Renal Coloboma Syndrome ◽  
Pax2 Gene ◽  
Syndrome Report

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation

2009 ◽  
Vol 72 (12) ◽  
pp. 497-500 ◽  
Author(s):  
T. Miyazawa ◽  
M. Nakano ◽  
Y. Takemura ◽  
K. Miyazaki ◽  
H. Yanagida ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gene Mutation ◽  
Renal Coloboma Syndrome ◽  
Pax2 Gene

scholarly journals KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation

2005 ◽  
Vol 85 (2) ◽  
pp. 152-155 ◽  
Author(s):  
Anette Bygum ◽  
Regina Betz ◽  
Knud Kragballe ◽  
Torben Steiniche ◽  
Nils Peeters ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Connexin 26 ◽  
Syndrome Report

Locked metacarpophalangeal joint associated with PAX2 gene mutation: a case report

2010 ◽  
Vol 35 (6) ◽  
pp. 517-519 ◽  
Author(s):  
Franck Atlan ◽  
Christophe Oberlin ◽  
Sébastien Durand
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Metacarpophalangeal Joint ◽  
Pax2 Gene

Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome

2021 ◽  
pp. 1-4
Author(s):  
Christine L. Benador-Shen ◽  
Elias Reichel ◽  
Dallas Reed ◽  
Lawrence S. Milner ◽  
Nancy Pinnell ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

scholarly journals Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation

2010 ◽  
Vol 36 (1) ◽  
pp. 12 ◽  
Author(s):  
Grazia Taddeucci ◽  
Alice Bonuccelli ◽  
Ilaria Mantellassi ◽  
Alessandro Orsini ◽  
Enrico Tarantino
Keyword(s):  
Gene Mutation ◽  
Syndrome Report

scholarly journals A case of a patient with afebrile convulsions diagnosed as having renal coloboma syndrome with PAX2 gene mutation

2015 ◽  
Vol 28 (2) ◽  
pp. 158-163
Author(s):  
Shoko Iwata ◽  
Mayumi Sakurai ◽  
Tomomi Higashide ◽  
Kazuhisa Sugiyama ◽  
Kengo Furuichi ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Renal Coloboma Syndrome ◽  
I Gene

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)

1998 ◽  
Vol 103 (2) ◽  
pp. 149-153 ◽  
Author(s):  
K. Devriendt ◽  
Gert Matthijs ◽  
Boudewijn Van Damme ◽  
Daniel Van Caesbroeck ◽  
Michael Eccles ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Renal Coloboma Syndrome ◽  
Pax2 Gene

scholarly journals Resolving Severe Oligohydramnios as an Early Prenatal Presentation of Renal Coloboma Syndrome - a Report of Two Generations

2021 ◽  
Author(s):  
Andrew Nguyen ◽  
Carla Campagnolo ◽  
Ghislain Hardy ◽  
Maha Saleh
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Ocular Abnormalities ◽  
Variable Expressivity ◽  
Two Generations ◽  
Renal Coloboma Syndrome ◽  
Pax2 Gene

Renal coloboma syndrome (RCS) is an autosomal dominant disorder associated with the PAX2 gene. With variable expressivity, renal and ocular abnormalities are reported in a majority of individuals affected. We highlight a mother and her newborn with RCS, both presenting prenatally, showing self-resolving severe oligohydramnios as an early prenatal finding.

Minor dysmorphic features in a patient with papillorenal syndrome – A Case Report

2020 ◽  
pp. 1-7
Author(s):  
Ferit Kulali ◽  
Ahmet Yagmur Bas ◽  
Fatma Iyigun Guzel ◽  
Husniye Yucel ◽  
Caner Kara ◽  
...  
Keyword(s):  
Critical Role ◽  
Multicystic Dysplastic Kidney ◽  
Renal Abnormality ◽  
Related Disorder ◽  
Dysmorphic Features ◽  
First Case ◽  
Dysplastic Kidney ◽  
Renal Coloboma Syndrome ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

Abstract Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormality. The syndrome causes mutations in the PAX2 gene, which plays a critical role in embryogenesis. Other related anomalies are less commonly observed. To our knowledge, ours is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features. Keywords: Renal coloboma syndrome; PAX2-related disorder; coloboma of optic nerve, multicystic dysplastic kidney; eye abnormalities Continuous...

Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation

2013 ◽  
Vol 13 (2) ◽  
pp. 267-272 ◽  
Author(s):  
Shirin Hasani-Ranjbar ◽  
Masoud Rahmanian ◽  
Azadeh Ebrahim-Habibi ◽  
Akbar Soltani ◽  
Akbar Soltanzade ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Carcinoid Tumor ◽  
Cushing Syndrome ◽  
Thymic Carcinoid ◽  
Men1 Gene ◽  
Men1 Syndrome ◽  
Thymic Carcinoid Tumor ◽  
Syndrome Report
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