De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay
Resham Ejaz; Anath C. Lionel; Susan Blaser; Susan Walker; Stephen W. Scherer; Riyana Babul‐Hirji; Christian R. Marshall; Dimitri J. Stavropoulos; David Chitayat
Author Information: Division of Clinical and Metabolic Genetics
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