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ataxia teleangiektázia
Č. záznamu d001260 Dátum 06.06.2025 Typ M - MESH Tematický termín ataxia teleangiektázia Iný termín Angličtina (Pseudonym) Louis-Bar Syndrome
Slovenčina (Pseudonym) Louis-Barovej syndróm
Slovenčina (Pseudonym) ataxia teleangiektatická
Slovenčina (Pseudonym) ataxia teleangiectasia
Slovenčina (Pseudonym) ataxia-teleangiektázia
MDT C10.228.140.252.190.530.060C10.562.100C10.597.350.090.500.530.060C14.907.823.213C16.320.080C16.320.798.250C18.452.284.060C20.673.795.250 Poznámka An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). 
predmetové heslo
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