Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

Piret, Sian E

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. [electronic resource] - American journal of medical genetics. Part A 11 2016 - 2988-2992 p. digital

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

1552-4833

10.1002/ajmg.a.37755 doi


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