Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
نویسندگان
چکیده
منابع مشابه
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
BACKGROUND Hereditary multiple osteochondromas (HMO), previously named hereditary multiple exostoses (HME), is an autosomal dominant skeletal disorder characterized by the growth of multiple osteochondromas and is associated with bony deformity, skeletal growth reduction, nerve compression, restriction of joint motion, and premature osteoarthrosis. HMO is genetically heterogeneous, localized on...
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Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
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ژورنال
عنوان ژورنال: Therapeutics and Clinical Risk Management
سال: 2016
ISSN: 1178-203X
DOI: 10.2147/tcrm.s111717