Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders

Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number. HαT affects 5% to 7% of Western populations and has been associated with joint hypermobility. Hypermobil...

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Detalles Bibliográficos
Autores principales: Vazquez, Maribel, Chovanec, Jack, Kim, Jiwon, DiMaggio, Thomas, Milner, Joshua D., Francomano, Clair A., Gurnett, Christina A., Ritelli, Marco, Colombi, Marina, Lyons, Jonathan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8917312/
https://www.ncbi.nlm.nih.gov/pubmed/35287299
http://dx.doi.org/10.1016/j.xhgg.2022.100094

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8917312/
https://www.ncbi.nlm.nih.gov/pubmed/35287299
http://dx.doi.org/10.1016/j.xhgg.2022.100094

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