Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

Fletcher, Jeffery

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. [electronic resource] - Journal of the American Society of Nephrology : JASN Sep 2005 - 2754-61 p. digital

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

1046-6673

10.1681/ASN.2005030239 doi


Adult
Amino Acid Sequence
Base Sequence
Child, Preschool
Coloboma--complications
DNA--genetics
Exons
Female
Heterozygote
Humans
Infant
Kidney--abnormalities
Male
Molecular Sequence Data
Mutation, Missense
PAX2 Transcription Factor--deficiency
Pedigree
Phenotype
Polycystic Kidney, Autosomal Dominant--complications
Sequence Deletion
Syndrome