A novel autosomal recessive GJB2‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23686
Abstract: Ichthyosis follicularis, a distinct cutaneous entity reported in combination with atrichia, and photophobia has been associated with mutations in MBTPS2. We sought the genetic cause of a novel syndrome of ichthyosis follicularis, bilateral severe sensorineural… read more here.
Keywords: bilateral severe; ichthyosis; sensorineural hearing; follicularis bilateral ... See more keywords
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome
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DOI: 10.1002/mgg3.812
Abstract: The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X‐linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non‐scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene… read more here.
Keywords: ichthyosis follicularis; follicularis alopecia; mbtps2; alopecia photophobia ... See more keywords
Ichthyosis follicularis syndromes in patients with mutations in GJB2
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Experimental Dermatology"
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