Počet záznamov: 1
LEOPARD-syndróm
SYS d044542 LBL 00000nz--a2200000o--4500 005 20250606214221.5 008 030709|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C05.660.207.525 065 $a C14.240.400.695 065 $a C14.280.400.695 065 $a C14.280.484.716.525 065 $a C16.131.077.525 065 $a C16.131.240.400.685 065 $a C16.131.621.207.525 065 $a C17.800.621.430.530.550.525 066 $a 01 $c 03 150 $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 $2 slo 550 $7 sllk_us_auth*d009456 $Y Neurofibromatosis 1 $w b $a neurofibromatóza 1 550 $7 sllk_us_auth*d009634 $Y Noonan Syndrome $w b $a Noonanovej syndróm 550 $7 sllk_us_auth*d009456 $Y Neurofibromatosis 1 $w p $a neurofibromatóza 1 550 $7 sllk_us_auth*d009634 $Y Noonan Syndrome $w p $a Noonanovej syndróm 665 $a 2004; use NEUROFIBROMATOSIS 1 2002 -2003 $2 eng 665 $a Lentigo (1970-2003) $2 eng 665 $a Syndrome (1971-2003) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a LEOPARD Syndrome $2 eng 980 $x M
Počet záznamov: 1