A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy.
Schumacher
Valérie
V
Institute of Human Genetics, Heinrich-Heine University Düsseldorf , Germany.
Thumfart
Julia
J
Drechsler
Matthias
M
Essayie
Maximillian
M
Royer-Pokora
Brigitte
B
Querfeld
Uwe
U
Müller
Dominik
D
D001284:Atrophy; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology*; D030321:Denys-Drash Syndrome / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D020125:Mutation, Missense; D025721:WT1 Proteins / Q000235:genetics*
D025721:WT1 Proteins