Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

Geleophysic dysplasia (GPHYSD1, MIM231050; GPHYSD2, MIM614185; GPHYSD3, MIM617809) is an autosomal disorder characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, and laryngotracheal stenosis. Mutations in ADAMTSL2, FBN1, and LTBP3 genes are responsible for this condition. We...

Descripción completa

Detalles Bibliográficos
Autores principales: Piccolo, Pasquale, Sabatino, Valeria, Mithbaokar, Pratibha, Polishchuck, Elena, Law, Simon K., Magraner-Pardo, Lorena, Pons, Tirso, Polishchuck, Roman, Brunetti-Pierri, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732760/
https://www.ncbi.nlm.nih.gov/pubmed/31516831
http://dx.doi.org/10.1016/j.ymgmr.2019.100504

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732760/
https://www.ncbi.nlm.nih.gov/pubmed/31516831
http://dx.doi.org/10.1016/j.ymgmr.2019.100504

Ejemplares similares