TY  - GEN
AU  - Iatropoulos,Paraskevas
AU  - Daina,Erica
AU  - Mele,Caterina
AU  - Maranta,Ramona
AU  - Remuzzi,Giuseppe
AU  - Noris,Marina
TI  - Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation
SN  - 1432-198X
PY  - 2013///0124
KW  - Amino Acid Substitution
KW  - Child, Preschool
KW  - Coloboma
KW  - diagnosis
KW  - Cysteine
KW  - Disease Progression
KW  - Diseases in Twins
KW  - Environment
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Heterozygote
KW  - Humans
KW  - Mutation
KW  - PAX2 Transcription Factor
KW  - genetics
KW  - Phenotype
KW  - Renal Insufficiency
KW  - Risk Factors
KW  - Twins, Monozygotic
KW  - Vesico-Ureteral Reflux
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00467-012-2205-x
ER  -