Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases

Background. This study deals with a rare (orphan) monogenic connective tissue disorder - Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKS2). Kyphoscoliotic type 2 Ehlers-Danlos syndrome is an autosomal recessive disorder caused by mutations in the FKBP14 gene (7p14.3), which encodes the FKBP22 pr...

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Detalles Bibliográficos
Autores principales: Semyachkina, Alla Nikolaevna, Nikolaeva, Ekaterina Alexandrovna, Galeeva, Nailya Mansurovna, Polyakov, Alexander Vladimirovich, Kurnikova, Maria Andreevna, Belova, Vera Аlexandrovna, Shulyakova, Irina Valerievna, Dantsev, Ilya Sergeevich, Dzhivanshiryan, Goar Vladimirovna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8408539/
https://www.ncbi.nlm.nih.gov/pubmed/34504686
http://dx.doi.org/10.12688/f1000research.52268.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8408539/
https://www.ncbi.nlm.nih.gov/pubmed/34504686
http://dx.doi.org/10.12688/f1000research.52268.1

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