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Pierre Robinov syndróm
SYS d010855 LBL 00000cx--j2200000---45-- 005 20240119201501.4 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a Pierre Robinov 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 65(64) $8 eng 330 1-
$a Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. $8 eng 450 $a Pierre Robinova sekvencia $5 e $8 slo 450 $a micrognatia-glossoptosis congenitalis $5 e $8 slo 450 $a Robinova sekvencia $5 e $8 slo 450 $a Robinov syndróm $5 e $8 slo 450 $a glosoptóza, mikrognatia a rázštep podnebia $5 e $8 slo 550 $3 sllk_un_auth*d050030 $Y Andersen Syndrome $5 F $a Andersenov syndróm 550 $3 sllk_un_auth*d055036 $Y Campomelic Dysplasia $5 F $a dysplázia kampomelická 550 $3 sllk_un_auth*d055758 $Y SOX9 Transcription Factor $5 F $a faktor transkripčný SOX9 550 $3 sllk_un_auth*d050030 $Y Andersen Syndrome $5 B $a Andersenov syndróm 550 $3 sllk_un_auth*d055036 $Y Campomelic Dysplasia $5 B $a dysplázia kampomelická 550 $3 sllk_un_auth*d055758 $Y SOX9 Transcription Factor $5 B $a faktor transkripčný SOX9 686 $a C05.500.460.606 686 $a C05.660.207.540.460.606 686 $a C07.320.440.606 686 $a C07.650.500.460.606 686 $a C16.131.621.207.540.460.606 686 $a C16.131.850.500.460.606 750 $a Pierre Robin Syndrome $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20020712 801 -2
$a SK $b BA006 $c 20200124 820 $a named for French dentist Pierre Robin: Robin is his surname; note: no hyphen $8 eng 980 $x M
Počet záznamov: 1