Results 151 to 160 of about 18,146 (216)

Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report. [PDF]

J Med Case Rep
Saleh TS, Poulsen T, Nyman JE.
europepmc   +1 more source

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing <i>Trichophyton rubrum</i> Infection and Blocker Displacement Amplification for Mosaic Mutation Detection. [PDF]

Biomedicines
Liu J, Fu Y, Zhang Q, Chen Q, Yang Y, Xue Y, Ren Y.   +6 more
europepmc   +1 more source

Ichthyosis Uteri Mimicking Endometrial Cancer with Apparent Myometrial Invasion. [PDF]

JMA J
Fujii M, Yokoyama K, Suzuki A, Ito E, Murakami S, Tanaka M, Taura S, Tateishi U.   +7 more
europepmc   +1 more source

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel <i>KRT2</i> variant in superficial epidermolytic ichthyosis with excellent retinoid response. [PDF]

JAAD Int
Bobica AC, Moussa S, Ouchene L, Udupa M, BinJadeed H, Bashihab R, Misiewicz Z, Grönroos L, Powell J, Chergui M, Marino TC, Foulkes WD, Netchiporouk E.   +12 more
europepmc   +1 more source

Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome. [PDF]

Mol Genet Metab Rep
Noman K, Tridimas A, Lilleker JB, Nucifora G, Woolfson P, du Plessis D, Woodall A, Oldham A, Roberts ME, Bassett J, Roncaroli F, Jones SA, Coassin S, Kronenberg F, Stepien KM.   +14 more
europepmc   +1 more source

The role of the skin microbiome in inherited ichthyoses: A systematic review. [PDF]

JAAD Int
Metyovinyi Z, Szondy I, Kiss N, Ostorházi E, Medvecz M.   +4 more
europepmc   +1 more source