Associated Papers
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
Cui X et al.
Molecular Genetics & Genomic Medicine, 2022
Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder.
Cui D et al.
Frontiers in Genetics, 2022
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Acharya A et al.
Journal of Human Genetics, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
Uehara T et al.
European Journal of Medical Genetics, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
van den Akker WMR et al.
Clinical Genetics, 2018
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
Hamilton MJ et al.
Journal of Medical Genetics, 2018
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