Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
- Kristen K. Rosano
- , Daniel J. Wegner
- , Marwan Shinawi
- , Dustin Baldridge
- , Robert C. Bucelli
- , Sonika Dahiya
- , Frances V. White
- , Marcia C. Willing
- , William McAllister
- , Ryan J. Taft
- , Krista Bluske
- , Amanda Buchanan
- , Francis Sessions Cole
- , Jennifer A. Wambach
- Division of Genetics and Genomic Medicine
- Institute of Clinical and Translational Sciences (ICTS)
- Division of Neuropathology
- Siteman Cancer Center
- Division of Newborn Medicine
- Center of Regenerative Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- Section of Neuromuscular Medicine
- DBBS - Biomedical Informatics and Data Science
- DBBS - Molecular Genetics and Genomics
- DBBS - Human and Statistical Genetics
- DBBS - Developmental, Regenerative and Stem Cell Biology
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Edison Family Center for Genome Sciences & Systems Biology
Research output: Contribution to journal › Article › peer-review
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