TY - JOUR
T1 - A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis
AU - Hu, Min
AU - Craig, Jonathan
AU - Howard, Neville
AU - Kan, Alex
AU - Chaitow, Jeffrey
AU - Little, Dianne
AU - Alexander, Stephen I.
PY - 2004/10
Y1 - 2004/10
N2 - We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.
AB - We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.
U2 - 10.1007/s00467-004-1564-3
DO - 10.1007/s00467-004-1564-3
M3 - Article
SN - 0931-041X
VL - 19
SP - 1160
EP - 1163
JO - PEDIATRIC NEPHROLOGY
JF - PEDIATRIC NEPHROLOGY
IS - 10
ER -