Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cases of rare congenital forms of aplastic anaemia are presented. Fanconi anaemia is most frequently diagnosed, while reticular dysgenesis, amegakaryocytic thrombocytopenia and dyskeratosis congenita occur exceptionally rarely. A presumably new entity of congenital aplastic anaemia called "RAC" syndrome (retinopathy--aplastic anaemia--central nervous system abnormalities) is presented too. A short summary of the pathomechanism of congenital aplastic anaemias and present therapeutic attempts, including the possible therapeutic use of the newly discovered stem cell factor are described.
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PMID:[Rare congenital forms of bone marrow deficiency]. 850 68