Emberger syndrome is an autosomal dominant disorder caused by mutations of the GATA2 gene. It is characterized by lymphedema, deafness, and myelodysplasia.
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Mansour S et al. (2010) Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. |
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Ostergaard P et al. (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). |
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Emberger JM et al. (1979) [Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. |
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Attal M et al. (1985) [Association of idiopathic lymphedema and familial acute leukemia. Apropos of a new case]. |
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OMIM.ORG article Omim 614038 |
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Orphanet article Orphanet ID 3226 |
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Wikipedia article Wikipedia EN (Emberger_syndrome) |