An ehpb1l1 nonsense mutation associated with congenital dyserythropoietic anemia and polymyopathy in labrador retriever littermates

HIGHLIGHTS

• who: G. Diane Shelton et al. from the Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA, USA have published the article: An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates, in the Journal: Genes 2022, 13, 1427. of /2022/
• what: We described a highly damaging EHBP1L1 missense variant associated with congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates.

SUMMARY

Congenital dyserythropoietic anemia and congenital polymyopathies are rare, inherited disorders. A clinical syndrome of congenital dyserythropoiesis and polymyopathy was . . .

 



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