Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. [electronic resource]
Producer: 20060125Description: 2754-61 p. digitalISSN:- 1046-6673
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
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