TY  - GEN
AU  - Fletcher,Jeffery
AU  - Hu,Min
AU  - Berman,Yemima
AU  - Collins,Felicity
AU  - Grigg,John
AU  - McIver,Margot
AU  - Jüppner,Harald
AU  - Alexander,Stephen I
TI  - Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2
SN  - 1046-6673
PY  - 2006///0125
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Child, Preschool
KW  - Coloboma
KW  - complications
KW  - DNA
KW  - genetics
KW  - Exons
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Kidney
KW  - abnormalities
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - PAX2 Transcription Factor
KW  - deficiency
KW  - Pedigree
KW  - Phenotype
KW  - Polycystic Kidney, Autosomal Dominant
KW  - Sequence Deletion
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1681/ASN.2005030239
ER  -