Article
Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
Dermatologic therapy - 1 Nov 2020
Asgari Tina, Naji Mahtab, Mansouri Parvin, Mahmoudi Hamidreza, Zabihi Masoud, Youssefian Leila, Mahdavi Mohammadreza, Naraghi Zahra Safaei, Zeinali Sirous, Vahidnezhad Hassan, Uitto Jouni
Abstract excerpt
Keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the GJB2 gene encoding connexin 26, a component of transmembrane hemichannels which form gap junction channels, critical for cell-cell communication. Here, we report two patients from two distinct families with KID syndrome with the same GJB2 mutation (p.Asp50Asn); in both cases the mutation was de novo, as the parents depicted the wild-type...
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