%0 Journal Article
%T Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
%A Andrea Farolfi
%A Cristina Gervasini
%A Davide Cittaro
%A Dejan Lazarevic
%A Elisa Adele Colombo
%A Gloria Negri
%A Lidia Larizza
%A Ludovica Volpi
%A Luigina Spaccini
%A Maria Vittoria Cubellis
%A Salvatore Zirpoli
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0514-z
%X Integrin ¦Á3 (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 before age 2 years, from multi-organ failure due to interstitial lung disease and congenital nephrotic syndrome. The involvement of skin and cutaneous adnexa was variable with sparse hair and nail dysplasia combined or not to skin lesions ranging from skin fragility to epidermolysis bullosa-like blistering
%K Integrin ¦Á3
%K ILNEB variant
%K Lung disease
%K Skin alterations
%K Whole-exome sequencing
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054609/