TY  - GEN
AU  - Schimmenti,L A
AU  - Shim,H H
AU  - Wirtschafter,J D
AU  - Panzarino,V A
AU  - Kashtan,C E
AU  - Kirkpatrick,S J
AU  - Wargowski,D S
AU  - France,T D
AU  - Michel,E
AU  - Dobyns,W B
TI  - Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome
SN  - 1059-7794
PY  - 2000///0106
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Amino Acid Sequence
KW  - Animals
KW  - Arnold-Chiari Malformation
KW  - Base Sequence
KW  - Child, Preschool
KW  - Coloboma
KW  - DNA Primers
KW  - DNA-Binding Proteins
KW  - Female
KW  - Genes, Dominant
KW  - Humans
KW  - Kidney
KW  - abnormalities
KW  - Male
KW  - Mice
KW  - Mutation
KW  - Mutation, Missense
KW  - PAX2 Transcription Factor
KW  - Pedigree
KW  - Phenotype
KW  - Syndrome
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E
ER  -