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LEOPARD syndrome (LS) is a rare hereditarydisorder in Asian countries.
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Religious melancholy was an hereditarydisorder in his family.
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Alport's syndrome is an X-linked hereditarydisorder affecting the glomerular basement membrane associated with ocular and hearing defects.
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The hereditarydisorder occurs in people whose blood plasma lacks fibrinogen, a protein from the liver that controls bleeding.
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Cyclic neutropenia is an hereditarydisorder of white blood cells, characterized by profound neutropenic episodes approximately every three weeks.
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Hypophosphatasia is a rare hereditarydisorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase activity.
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It could also play a role in a rare, hereditarydisorder called familial LCAT deficiency in which the LCAT enzyme is absent.
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In children, it is usually a hereditarydisorder, while in adults it is usually acquired secondary to viral infections, collagenoses, or tumors.
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Wilson's disease is a hereditarydisorder and is usually diagnosed in patients presenting either neuropsychiatric disorders or manifestations related to chronic liver disease.
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Sickle cell anemia (SCA) is a hereditarydisorder with higher potential for oxidative damage due to chronic redox imbalance in red cells.
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The Wiskott-Aldrich syndrome is an X-linked hereditarydisorder associated with combined immunodeficiency, thrombocytopenia, small platelets, eczema, and increased susceptibility to autoimmune disorders and cancers.
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Mutation is associated with developmental and hereditarydisorders, aging, and cancer.
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Cystic fibrosis (CF) is one of the most common hereditarydisorders among Caucasians.
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Multiple cancers can arise in a patient either synchronously or metachronously and are frequently detected in hereditarydisorders.
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Around 15-20 hereditarydisorders associated with impaired DNA damage response mechanisms have been previously described.
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The skeletal dysplasias form a large group of hereditarydisorders characterized by abnormal growth and malformations of bone and cartilage.