Associated Papers
A naturally occurring canine model of syndromic congenital microphthalmia.
Murgiano L et al.
G3 (bethesda, Md.), 2024
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
37091189 (PubMed )
Supplement: Table_1.xlsx › DNAJC21
A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
Alsavaf MB et al.
British Journal of Haematology, 2022
Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis.
Chirita-Emandi A et al.
Frontiers in Genetics, 2022
Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G et al.
Clinical Genetics, 2018
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Advances in Biological Regulation, 2018
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Dhanraj S et al.
Blood, 2017
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