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congenital dyserythropoietic anemia type I

Congenital dyserythropoietic anemia type I is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus. MIM.224120

Etiology

- mutations in codanin-1 (CDAN1 gene at 15q15) (12434312)

P.S.


- MIM.224120