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 Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome

2017 ◽  
Vol 41 (5) ◽  
pp. 271-278 ◽  
Author(s):  
Alberto Galvez-Ruiz ◽  
Anthony J. Lehner ◽  
Alicia Galindo-Ferreiro ◽  
Patrik Schatz
Keyword(s):  
Gene Mutations ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

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 A new mutation in the PAX2 gene in a Papillorenal Syndrome patient

2019 ◽  
Vol 16 ◽  
pp. 100563
Author(s):  
Rahul Rachwani Anil ◽  
Carlos Rocha-de-Lossada ◽  
Carlos Hernando Ayala ◽  
Manuela España Contreras
Keyword(s):  
Syndrome Patient ◽  
New Mutation ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

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

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...

De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome

2005 ◽  
Vol 139 (4) ◽  
pp. 733-735 ◽  
Author(s):  
Keiko Yoshimura ◽  
Shigeo Yoshida ◽  
Yoko Yamaji ◽  
Aiko Komori ◽  
Ayako Yoshida ◽  
...  
Keyword(s):  
Japanese Patient ◽  
De Novo ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

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

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Casr Gene
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