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

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

MG-106 Global developmental delay and characteristic facial features associated with pacs1 gene mutation – report of two cases

2015 ◽  
Vol 52 (Suppl 1) ◽  
pp. A1.2-A1
Author(s):  
Lauren Chad ◽  
Brian HY Chung ◽  
Christian R Marshall ◽  
Daniele Merico ◽  
Riyana Babul-Hirji ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gene Mutation ◽  
Global Developmental Delay ◽  
Facial Features

scholarly journals Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation

Diabetologia ◽  
2010 ◽  
Vol 54 (2) ◽  
pp. 469-471 ◽  
Author(s):  
N. Zwaveling-Soonawala ◽  
E. E. Hagebeuk ◽  
A. S. Slingerland ◽  
C. Ris-Stalpers ◽  
T. Vulsma ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Abcc8 Gene ◽  
Successful Transfer

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

Developmental Delay, Tremors, and EEG Abnormalities: A Case of KCTD7 Gene Mutation

2018 ◽  
Vol 49 (S 01) ◽  
pp. S1-S12
Author(s):  
L. Malerba ◽  
F. Pagani ◽  
S. Gambara ◽  
P. Accorsi ◽  
E. Fazzi
Keyword(s):  
Developmental Delay ◽  
Gene Mutation ◽  
Eeg Abnormalities

A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay

PEDIATRICS ◽  
2008 ◽  
Vol 121 (1) ◽  
pp. e199-e202 ◽  
Author(s):  
A. Papadimitriou ◽  
A. M. Dumitrescu ◽  
A. Papavasiliou ◽  
A. Fretzayas ◽  
P. Nicolaidou ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gene Mutation ◽  
Monocarboxylate Transporter

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.

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