A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations. [electronic resource]
- Pediatric nephrology (Berlin, Germany) Mar 2014
- 481-5 p. digital
Publication Type: Case Reports; Journal Article
1432-198X
10.1007/s00467-013-2682-6 doi
Adolescent Adult Aged Collagen Type IV--genetics DNA Mutational Analysis Disease Progression Female Genes, X-Linked Genetic Predisposition to Disease Heredity Heterozygote Humans Kidney Failure, Chronic--genetics Male Mosaicism Mutation Nephritis, Hereditary--complications Pedigree Phenotype Prognosis Renal Insufficiency--genetics Time Factors Young Adult