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...

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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Main Authors: Piccolo, Pasquale, Sabatino, Valeria, Mithbaokar, Pratibha, Polishchuck, Elena, Law, Simon K., Magraner-Pardo, Lorena, Pons, Tirso, Polishchuck, Roman, Brunetti-Pierri, Nicola
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2019
Assuntos:
Research Paper
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732760/
https://ncbi.nlm.nih.gov/pubmed/31516831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100504
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