Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant
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DOI: 10.3389/fgene.2022.955041
Abstract: Background: Sheldon–Hall syndrome (SHS) or distal arthrogryposis 2B (DA2B) is a rare clinically and genetically heterogeneous multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs and mild facial involvement, due… read more here.
Keywords: tnnt3; distal arthrogryposis; sheldon hall; pathogenic variant ... See more keywords