Novel CLCN7 mutations cause autosomal dominant osteopetrosis type�II and intermediate autosomal recessive osteopetrosis
نویسندگان
چکیده
منابع مشابه
Autosomal recessive osteopetrosis
Keywords Disease name / synonyms Excluded Diseases Diagnosis criteria /definition Differential diagnosis Incidence Clinical Description Management including treatment Outcome Etiology Genetics Counseling Antenatal Diagnosis Unresolved questions References Abstract Autosomal recessive "malignant" osteopetrosis is a rare congenital disorder of bone resorption (less than 1:200,000 births). It is c...
متن کاملIdentification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical heterogeneity, and is caused by defective osteoclastic resorption. The three main forms are the autosomal recessive severe (ARO), the intermediate autosomal and the autosomal dominant benign osteopetrosis forms. In the present study, the clinical, biochemical and radiological manifestations were described in ...
متن کاملAutosomal recessive osteopetrosis: diagnosis, management, and outcome.
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متن کاملCranial CT of autosomal recessive osteopetrosis.
Eight infants with radiographic and bone biopsy evidence of autosomal recessive osteopetrosis were evaluated by cranial CT. The clinical presentations and CT characteristics support the theory that this disorder exhibits severe and mild variants. At an early stage the severe variant demonstrates small optic canals, small orbits with proptosis, and a small nasoethmoid complex without significant...
متن کاملNovel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder ...
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ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2019
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2019.10123