Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. [electronic resource]
Producer: 20171019Description: 2988-2992 p. digitalISSN:- 1552-4833
- Acidosis, Renal Tubular -- diagnosis
- Alleles
- Child, Preschool
- Chloride Channels
- DNA Mutational Analysis
- Exome
- Female
- Genes, Dominant
- Genetic Association Studies
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- Magnetic Resonance Imaging
- Male
- Mutation
- Osteopetrosis -- diagnosis
- Pedigree
- Phenotype
- Radiography
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.