Novel CLCN7 mutations in IARO
Okamoto, Nana Kobe University
Kohmoto, Tomohiro Tokushima University
Komori, Takahide Kobe University
Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.
Human Genome Variation
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