Associated Papers
A naturally occurring canine model of syndromic congenital microphthalmia.
Murgiano L et al.
G3 (bethesda, Md.), 2024
A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features.
Durmaz D et al.
Journal of Pediatric Hematology/oncology, 2024
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
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Tummala H et al.
American Journal of Human Genetics, 2016
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