Iatropoulos, Paraskevas

Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation. [electronic resource] - Pediatric nephrology (Berlin, Germany) Oct 2012 - 1989-93 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1432-198X

10.1007/s00467-012-2205-x doi


Amino Acid Substitution
Child, Preschool
Coloboma--diagnosis
Cysteine
Disease Progression
Diseases in Twins--diagnosis
Environment
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Mutation
PAX2 Transcription Factor--genetics
Phenotype
Renal Insufficiency--diagnosis
Risk Factors
Twins, Monozygotic--genetics
Vesico-Ureteral Reflux--diagnosis
Young Adult