Associated Papers
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
Pande S et al.
American Journal of Medical Genetics. Part A, 2023
Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2022
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
Select a paper to view details