[Familial congenital thrombopenia associated with multiple osseous malformations].
D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D005124:Eye Abnormalities; D005260:Female; D034381:Hearing Loss / Q000150:complications; D006801:Humans; D017880:Limb Deformities, Congenital; D011696:Purpura, Thrombocytopenic / Q000151:congenital / Q000235:genetics*; D012886:Skull / Q000002:abnormalities
Trombopenie congenitală familială asociată cu malformaţii osoase multiple.