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LEOPARD-syndróm
SYS d044542 LBL 00000nx--j22000003--45-- 005 20240119201433.0 100 $a 20030709csloy0103----ba0 152 $b mesh 250 $a LEOPARD-syndróm $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 $8 slo 300 1-
$a 2004; use NEUROFIBROMATOSIS 1 2002 -2003 $8 eng 300 1-
$a Lentigo (1970-2003) $8 eng 300 1-
$a Syndrome (1971-2003) $8 eng 330 1-
$a An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. $8 eng 550 $3 sllk_un_auth*d009456 $Y Neurofibromatosis 1 $5 B $a neurofibromatóza 1 550 $3 sllk_un_auth*d009634 $Y Noonan Syndrome $5 B $a Noonanovej syndróm 550 $3 sllk_un_auth*d009456 $Y Neurofibromatosis 1 $5 F $a neurofibromatóza 1 550 $3 sllk_un_auth*d009634 $Y Noonan Syndrome $5 F $a Noonanovej syndróm 686 $a C05.660.207.525 686 $a C14.240.400.695 686 $a C14.280.400.695 686 $a C14.280.484.716.525 686 $a C16.131.077.525 686 $a C16.131.240.400.685 686 $a C16.131.621.207.525 686 $a C17.800.621.430.530.550.525 750 $a LEOPARD Syndrome $8 eng 801 -0
$a US $b DNLM $c 20030709 801 -2
$a SK $b BA006 $c 20040415 980 $x M
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