TY  - GEN
AU  - Devriendt,K
AU  - Matthijs,G
AU  - Van Damme,B
AU  - Van Caesbroeck,D
AU  - Eccles,M
AU  - Vanrenterghem,Y
AU  - Fryns,J P
AU  - Leys,A
TI  - Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)
SN  - 0340-6717
PY  - 1998///1023
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Coloboma
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Female
KW  - Gene Duplication
KW  - Humans
KW  - Kidney
KW  - abnormalities
KW  - Male
KW  - Mutation, Missense
KW  - Optic Disk
KW  - PAX2 Transcription Factor
KW  - Pedigree
KW  - Renal Insufficiency
KW  - Retinal Vessels
KW  - Syndrome
KW  - Transcription Factors
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s004390050798
ER  -