Associated Papers
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.
Cario H et al.
British Journal of Haematology, 2024
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Lee S et al.
Blood, 2021
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