Piret, Sian E <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37755  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acidosis, Renal Tubular--diagnosis<br/>Alleles<br/>Child, Preschool<br/>Chloride Channels<br/>DNA Mutational Analysis<br/>Exome<br/>Female<br/>Genes, Dominant<br/>Genetic Association Studies<br/>Genotype<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation<br/>Osteopetrosis--diagnosis<br/>Pedigree<br/>Phenotype<br/>Radiography