Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
3348RUBINSTEIN-TAYBI SYNDROMET-Lymphocytes + IL2Affected
3348RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsAffected
4440RUBINSTEIN-TAYBI SYNDROMET-Lymphocytes + IL2Affected
4440RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsAffected
4931RUBINSTEIN-TAYBI SYNDROMET-Lymphocytes + IL2Affected
4956RUBINSTEIN-TAYBI SYNDROMET-Lymphocytes + IL2Affected
4931RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsAffected
4956RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsAffected
6043RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsAffected
7412RUBINSTEIN-TAYBI SYNDROMELeukocytesNot affected
7412RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsNot affected
7413RUBINSTEIN-TAYBI SYNDROMELeukocytesNot affected
7413RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsNot affected
7551RUBINSTEIN-TAYBI SYNDROMEDNAAffected
7551RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsAffected
7551RUBINSTEIN-TAYBI SYNDROMELymphoblast cellsAffected