Result: Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2024

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

British journal of haematology. - 205, 6 (2024) , 2363-2369, ISSN: 1365-2141

*DOI*:

10.1111/bjh.19793

*Result*: Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy