Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations.
Hoskins
Bethan E
BE
Cramer
Carl H
CH
Tasic
Velibor
V
Kehinde
Elijah O
EO
Ashraf
Shazia
S
Bogdanovic
Radovan
R
Hoefele
Julia
J
Pohl
Martin
M
Hildebrandt
Friedhelm
F
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D014551:Urinary Tract / Q000002:abnormalities*
C496495:HNF1B protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D051539:Hepatocyte Nuclear Factor 1-beta; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases