Počet záznamov: 1
Noonanovej syndróm
SYS d009634 LBL 00000cx--j2200000---45-- 005 20240119201504.5 100 $a 19921205asloy0103----ba0 152 $b mesh 250 $a Noonanovej 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 1979 $8 eng 300 1-
$a Turner's Syndrome (1966-1978) $8 eng 330 1-
$a A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. $8 eng 450 $a Male Turner Syndrome $5 e $8 eng 450 $a Turner Syndrome, Male $5 e $8 eng 450 $a Turnerov syndróm mužský $5 e $8 slo 450 $a Turnerov syndróm u mužov $5 e $8 slo 550 $3 sllk_un_auth*d009456 $Y Neurofibromatosis 1 $5 B $a neurofibromatóza 1 550 $3 sllk_un_auth*d056685 $Y Costello Syndrome $5 F $a Costellov syndróm 550 $3 sllk_un_auth*d044542 $Y LEOPARD Syndrome $5 F $a LEOPARD-syndróm 550 $3 sllk_un_auth*d009456 $Y Neurofibromatosis 1 $5 F $a neurofibromatóza 1 550 $3 sllk_un_auth*d014424 $Y Turner Syndrome $5 F $a Turnerov syndróm 550 $3 sllk_un_auth*d014424 $Y Turner Syndrome $5 B $a Turnerov syndróm 550 $3 sllk_un_auth*d044542 $Y LEOPARD Syndrome $5 B $a LEOPARD-syndróm 550 $3 sllk_un_auth*d056685 $Y Costello Syndrome $5 B $a Costellov syndróm 686 $a C05.660.207.690 686 $a C14.240.400.787 686 $a C14.280.400.787 686 $a C16.131.240.400.784 686 $a C16.131.621.207.690 686 $a C17.300.690 750 $a Noonan Syndrome $8 eng 801 -0
$a US $b DNLM $c 19921205 801 -2
$a SK $b BA006 $c 20020322 801 -2
$a SK $b BA006 $c 20101223 980 $x M
Počet záznamov: 1