ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant
Article in American Journal of Medical Genetics Part A (April 2024)
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Article in American Journal of Medical Genetics Part A (April 2024)
Article in Journal of Nephrology (May 2021)
Article in Journal of Medicine and Palliative Care (September 2020)