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Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: zambruno g. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F. Fortugno P, et al. Among authors: zambruno g. J Invest Dermatol. 2014 Aug;134(8):2146-2153. doi: 10.1038/jid.2014.119. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577405 Free article.
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.
Castiglia D, Fortugno P, Condorelli AG, Barresi S, De Luca N, Pizzi S, Neri I, Graziano C, Trojan D, Ponzin D, Rossi S, Zambruno G, Tartaglia M. Castiglia D, et al. Among authors: zambruno g. Genes (Basel). 2021 May 11;12(5):716. doi: 10.3390/genes12050716. Genes (Basel). 2021. PMID: 34064633 Free PMC article.
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
Diociaiuti A, Castiglia D, Fortugno P, Bartuli A, Pascucci M, Zambruno G, El Hachem M. Diociaiuti A, et al. Among authors: zambruno g. Pediatr Dermatol. 2013 Jul-Aug;30(4):e65-7. doi: 10.1111/pde.12076. Epub 2013 Jan 17. Pediatr Dermatol. 2013. PMID: 23331056
309 results