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Wolfov-Hirschhornov syndróm
SYS d054877 LBL 00000nx--j2200000---45-- 005 20240119200608.6 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a Wolfov-Hirschhornov 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 2008 $8 eng 300 1-
$a Abnormalities, Multiple (1970-2007) $8 eng 300 1-
$a Chromosome Deletion (1978-2007) $8 eng 330 1-
$a A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS. $8 eng 450 $a Wolf-Hirschhornov syndróm $5 e $8 slo 686 $a C16.131.077.944 686 $a C16.131.260.985 686 $a C16.320.180.985 750 $a Wolf-Hirschhorn Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20080318 980 $x M
Počet záznamov: 1