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Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1 Gene

Mendelian DisorderGenetic DisorderGeneticsKind1 GeneMolecular BiologyPathologyKindler SyndromeMolecular GeneticsDisease Gene IdentificationGenomicsMedicineSplice SiteClinical Genetics