Results 81 to 90 of about 434 (146)

A novel mutation of the RNA-specific adenosine deaminase 1 gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria and Becker's nevus-like lesion

Dermatologica Sinica, 2016
Yu-Chen Chen, Sheau-Chiou Chao, Mei-Hui Yang, Chao-Chun Yang   +3 more
doaj   +1 more source

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria. [PDF]

BMC Med Genomics, 2021
Cao L, Zhang R, Yong L, Chen S, Zhang H, Chen W, Xu Q, Ge H, Mao Y, Zhen Q, Yu Y, Hu X, Sun L.   +12 more
europepmc   +1 more source

A two-stage workflow for vitiligo diagnosis: clinical characteristic classification and large language model (LLM)-based report generation. [PDF]

Front Immunol
He K, Xu T, Feng Y, Lu Y, Wang X, Jiang L, Guo S, He Y, Dai W, Zhang W, Zhang J, Lu H, Huang D, Li S.   +13 more
europepmc   +1 more source

Middle of the breasts pigmentation in a pedigree with POFUT1-related Dowling-Degos disease, expansion of the phenotype. [PDF]

Postepy Dermatol Alergol, 2021
Wu Y, Zhang W, Wu J, Ma Y, Cui P, Li C.
europepmc   +1 more source

Dyschromatosis Symmetrica Hereditaria and RNA Editing Enzyme [PDF]

, 2020
Michihiro Kono, Masashi Akiyama
core  

Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the <i>ADAR1</i> c.<i>3019G</i>>A Variant. [PDF]

Clin Case Rep
Turan K, Pokorna P, Rihova K, Kubatova J, Kozelkova K, Hlouskova E, Danhofer P, Jabandziev P, Damborsky J, Demlova R, Slaby O, Slaba K.   +11 more
europepmc   +1 more source

Hyperkeratotic lesions on palms and soles. [PDF]

JAAD Case Rep
Khemani UN, Fogla N, Poojary S, Sajgane AA.   +3 more
europepmc   +1 more source

A rare case of late-onset amyloidosis cutis dyschromica. [PDF]

JAAD Case Rep
Lau M, Moshiri A, Khalil S, Siegel L.
europepmc   +1 more source

Dermatological Enigma Unveiled: A Rare Case Report on Dowling-Degos Disease. [PDF]

Int J Appl Basic Med Res
Goswami PR, Pathania YS, Singh G, Patel T, Agarwal A.   +4 more
europepmc   +1 more source

Adenosine deaminase acting on RNA1 mutation in chilblain lupus treated with tofacitinib. [PDF]

JAAD Case Rep
Velaoras AT, Iqbal S, Silberzweig A, Frasier K, Gottesman SP, Magro CM, Shaigany S.   +6 more
europepmc   +1 more source