Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Schimmenti, L A

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. [electronic resource] - Human mutation 1999 - 369-76 p. digital

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

1059-7794

10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E doi


Abnormalities, Multiple--genetics
Adult
Amino Acid Sequence
Animals
Arnold-Chiari Malformation--genetics
Base Sequence
Child, Preschool
Coloboma--genetics
DNA Primers--genetics
DNA-Binding Proteins--genetics
Female
Genes, Dominant
Humans
Kidney--abnormalities
Male
Mice
Mutation
Mutation, Missense
PAX2 Transcription Factor
Pedigree
Phenotype
Syndrome
Transcription Factors--genetics