Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
42THANATOPHORIC DYSPLASIA (TYPE I)FibroblastAffected
983THANATOPHORIC DYSPLASIA (TYPE I)Amniotic cellAffected
1010THANATOPHORIC DYSPLASIA (TYPE I)Amniotic cellAffected
1472THANATOPHORIC DYSPLASIA (TYPE I)TissueAffected
1472THANATOPHORIC DYSPLASIA (TYPE I)FibroblastAffected
1485THANATOPHORIC DYSPLASIA (TYPE I)Amniotic cellAffected
1542THANATOPHORIC DYSPLASIA (TYPE I)Amniotic cellAffected
2425THANATOPHORIC DYSPLASIA (TYPE I)Lymphoblast cellsAffected
3567THANATOPHORIC DYSPLASIA (TYPE I)Amniotic cellAffected
3415THANATOPHORIC DYSPLASIA (TYPE I)Lymphoblast cellsAffected
3415THANATOPHORIC DYSPLASIA (TYPE I)T-Lymphocytes + IL2Affected
5195THANATOPHORIC DYSPLASIA (TYPE I)Amniotic cellAffected
5195THANATOPHORIC DYSPLASIA (TYPE I)FibroblastAffected
5786THANATOPHORIC DYSPLASIA (TYPE I)DNAAffected
5787THANATOPHORIC DYSPLASIA (TYPE I)DNAAffected
5788THANATOPHORIC DYSPLASIA (TYPE I)DNAAffected
5789THANATOPHORIC DYSPLASIA (TYPE I)DNAAffected
6283THANATOPHORIC DYSPLASIA (TYPE I)FibroblastAffected
6283THANATOPHORIC DYSPLASIA (TYPE I)DNAAffected