Ichthyosis follicularis syndromes in patients with mutations in GJB2.
Youssefian L, Naji M, Park JS, Rajabi F, Abdollahimajd F, Mahmoudi H, Kamyab-Hesari K, Ghalamkarpour F, Zabihi M, Teimoorian M, Youssefian L, Zeinali S, Vahidnezhad H, Uitto J.
Youssefian L, et al.
Clin Exp Dermatol. 2022 Aug;47(8):1561-1566. doi: 10.1111/ced.15217. Epub 2022 Jun 23.
Clin Exp Dermatol. 2022.
PMID: 35396755
Using DNA from peripheral blood lymphocytes, two compound heterozygous mutations, c.526A>G and c.35delG, were discovered in GJB2. In Family 2, the proband (Patient 2) presented with a previously unreported IF phenotype in the context of keratitis-ichthyosis-deafness syn …
Using DNA from peripheral blood lymphocytes, two compound heterozygous mutations, c.526A>G and c.35delG, were discovered in GJB2. …