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ataxia teleangiektázia
SYS d001260 LBL 00000cz--a2200000n--4500 005 20250606213602.7 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $a BA006 065 $a C10.228.140.252.190.530.060 065 $a C10.562.100 065 $a C10.597.350.090.500.530.060 065 $a C14.907.823.213 065 $a C16.320.080 065 $a C16.320.798.250 065 $a C18.452.284.060 065 $a C20.673.795.250 066 $a 01 $c 03 150 $a ataxia teleangiektázia $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Louis-Bar Syndrome $2 eng 450 $w v $a Louis-Barovej syndróm $2 slo 450 $w v $a ataxia teleangiektatická $2 slo 450 $w v $a ataxia teleangiectasia $2 slo 450 $w v $a ataxia-teleangiektázia $2 slo 665 $a 1968 $2 eng 665 $a Ataxia (1966-1967) $2 eng 680 9-
$i 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). $2 eng 750 -2
$a Ataxia Telangiectasia $2 eng 980 $x M
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