Results 171 to 180 of about 19,213 (227)

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport. [PDF]

J Clin Invest
Zhang Z, Huang S, Jackson A, Jones EA, Banka S, Yang C, Zhao S, Lv K, Peng S, Lin Z, Wang H.   +10 more
europepmc   +1 more source

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by <i>AP1S1</i> and <i>AP1B1</i> mutations. [PDF]

Front Neurol
Wu R, Luo X, Wang XP.
europepmc   +1 more source

Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review. [PDF]

Pharmaceuticals (Basel)
Oliveira BA, Torres A, Ricci-Júnior E, Almeida IF, Monteiro MSSB.   +4 more
europepmc   +1 more source

Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]

Cell Tissue Res
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc   +1 more source

Mirror Movements and Ichthyosis in a Child: A Rare Presentation of Kallmann Syndrome. [PDF]

Ann Indian Acad Neurol
Vachher H, Gandhi D, Pachapure S, Kamate M.   +3 more
europepmc   +1 more source

Ichthyosis

, 2018
openaire   +1 more source