PLOSL is an adult-onset recessively inherited disorder of bones and central nervous system leading to early dementia and death. Recent studies have shown that the genetic basis of PLOSL is mutation(s) in the gene encoding a tyrosine kinase-binding protein TYROBP. Onset of clinical disease occurs in the third decade of life with pain and swelling following strain of the wrist and ankle. Fractures ... [MORE]
Online Mendelian Inheritance in Man
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Population genetics, references, and symptoms of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as Nasu-Hakola disease, and as presenile dementia with bone cysts.
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