Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

BACKGROUND: Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA3 mutations and presented a dramatically severe phenotype leading to death b...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: Colombo, Elisa Adele, Spaccini, Luigina, Volpi, Ludovica, Negri, Gloria, Cittaro, Davide, Lazarevic, Dejan, Zirpoli, Salvatore, Farolfi, Andrea, Gervasini, Cristina, Cubellis, Maria Vittoria, Larizza, Lidia
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5054609/
https://ncbi.nlm.nih.gov/pubmed/27717396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0514-z
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki