TY  - GEN
AU  - Piret,Sian E
AU  - Gorvin,Caroline M
AU  - Trinh,Anne
AU  - Taylor,John
AU  - Lise,Stefano
AU  - Taylor,Jenny C
AU  - Ebeling,Peter R
AU  - Thakker,Rajesh V
TI  - Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
SN  - 1552-4833
PY  - 2017///1019
KW  - Acidosis, Renal Tubular
KW  - diagnosis
KW  - Alleles
KW  - Child, Preschool
KW  - Chloride Channels
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Female
KW  - Genes, Dominant
KW  - Genetic Association Studies
KW  - Genotype
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Osteopetrosis
KW  - Pedigree
KW  - Phenotype
KW  - Radiography
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.37755
ER  -