Ichthyosis follicularis syndromes in patients with mutations in GJB2
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DOI: 10.1111/ced.15217
Abstract: Ichthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180… read more here.
Keywords: follicularis syndromes; ichthyosis; ichthyosis follicularis; syndromes patients ... See more keywords