Associated Papers
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Garg N et al.
Clinical Genetics, 2025
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Silveira KC et al.
Human Genetics, 2023
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
Sarma AS et al.
European Journal of Medical Genetics, 2023
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