Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum

The genomic region surrounding the Tenascin‐XB gene ( TNXB ) is a complex and duplicated region, with several pseudogenes that predispose to high rates of homologous recombination. Classical‐like Ehlers–Danlos syndrome (clEDS) is the result of tenascin‐X deficiency due to biallelic loss of function...

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Detalles Bibliográficos
Autores principales: Santoreneos, Renee, Vakulin, Cassandra, Ellul, Melissa, Rawlings, Lesley, Hardy, Tristan, Poplawski, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303620/
https://www.ncbi.nlm.nih.gov/pubmed/35128805
http://dx.doi.org/10.1002/ajmg.a.62674

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303620/
https://www.ncbi.nlm.nih.gov/pubmed/35128805
http://dx.doi.org/10.1002/ajmg.a.62674

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