Castiglia Daniele | Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs

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Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family
Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations
Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements

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