Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

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 to pathogenic variants in genes enco...

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Detalles Bibliográficos
Autores principales: Dabaj, Ivana, Carlier, Robert Y., Dieterich, Klaus, Desguerre, Isabelle, Faure, Julien, Romero, Norma B., Trang, Wenting, Quijano-Roy, Susana, Germain, Dominique P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034368/
https://www.ncbi.nlm.nih.gov/pubmed/36968005
http://dx.doi.org/10.3389/fgene.2022.955041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034368/
https://www.ncbi.nlm.nih.gov/pubmed/36968005
http://dx.doi.org/10.3389/fgene.2022.955041

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