Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis

Arthrogryposis describes the presence of multiple joint‐contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative transmembrane protein of the ER‐Golgi interface. Two h...

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Detalles Bibliográficos
Autores principales: Marconi, Caterina, Lemmens, Laure, Masclaux, Frédéric, Mattioli, Francesca, Fluss, Joël, Extermann, Philippe, Mendez, Purificacion, Leuchter, Russia Ha‐Vinh, Stathaki, Elissavet, Laurent, Sacha, Hammar, Eva, Vannier, Anne, Varvagiannis, Konstantinos, Guipponi, Michel, Sloan‐Bena, Frédérique, Blouin, Jean‐Louis, Abramowicz, Marc, Fokstuen, Siv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453841/
https://www.ncbi.nlm.nih.gov/pubmed/34037256
http://dx.doi.org/10.1111/cge.14004

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