Results 91 to 100 of about 1,256 (158)

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. [PDF]

open access: yesHum Mutat, 2019
Youssefian L   +12 more
europepmc   +1 more source

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. [PDF]

open access: yesJ Invest Dermatol, 2013
Pöhler E   +7 more
europepmc   +1 more source

Punctate palmoplantar keratoderma associated with morbus Bechterew and HLA B 27. A family study.

open access: yesActa dermato-venereologica, 1988
Four patients in a family with punctate palmoplantar keratoderma (Buschke-Fischer) associated with Morbus Bechterew and HLA B 27 in 3 of the family members are reported. Without severe side effect, the proband was successfully treated with 50 mg etretinate per day for 6 weeks.
openaire   +1 more source

Connexin26 and 43 play a role in regulating pro-inflammatory events in the epidermis [PDF]

open access: yes, 2019
Bartholomew, Christopher   +4 more
core   +1 more source

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in <i>FAM83G</i>. [PDF]

open access: yesFront Med (Lausanne)
Mora-Gómez M   +16 more
europepmc   +1 more source

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