Results 91 to 100 of about 695 (177)

Dyschromatosis universalis hereditaria.

Indian journal of dermatology, venereology and leprology, 2012
Dyschromatosis universalis hereditaria is a common disorder in Japan. We report a case in an Indian woman with no family history of the disorder.
R, Rai, I, Kaur, S, Handa, B, Kumar
openaire   +1 more source

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

, 2013
Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6.
Xiao-Buo Fan, Xin-Yi Xia (480239), Xin-Yi Xia, Yang Zhou (65942), Hong-Lin Yin, Tong Ni, Gang Wang, Bing Yao (336395), Lin Gao (344965), Wei-Ping Wang (480242), Yu-An Hu, Xiao-Buo Fan (480243), Hong-Lin Yin (480244), Yu-An Hu (480246), Lin Gao, Tong Ni (480241), Xiao-Jun Li, Yang Zhou, Shao-Jun Jiang (480245), Bing Yao, Xiao-Jun Li (1718128), Gang Wang (36685), Ying-Xia Cui, Wei-Ping Wang, Shao-Jun Jiang, Xue-Jun Shang, Xue-Jun Shang (480240), Ying-Xia Cui (480238)   +27 more
core   +1 more source

Molecular genetics of the ABCB6 gene.

, 2014
Abbreviations: DUH: dyschromatosis universalis hereditaria; del: deletion; dup: duplication; fs: frameshift; ins: insertion; N.D.:not determined; rs: RefSNP.Molecular genetics of the ABCB6 gene.
Gyorgy Varady (5661106), Hajnalka Andrikovics (120123), Gergely Szakacs (2633), Geza Antalffy (652424), Magdalena Koszarska (120126), Yoshihiko Tani (652428), Lukasz Pulaski (652427), Dominik Strapagiel (652426), Balazs Sarkadi (5661109), Nora Kucsma (163158), Maciej Studzian (652425), Katalin Kiss (163150), Attila Tordai (92517), Melinda Gera (163167)   +13 more
core   +1 more source

Dyschromatosis Symmetrica Hereditaria- A Peculiar Pathological Inherited Cutaneous Disorder with De-novo Presentation

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Dyschromatosis symmetrica hereditaria (DSH), is an autosomal dominant (AD) genetic disorder with a significant permeation, primarily referred to as reticulate acropigmentation of Dohi.
Banyameen Iqbal, Nayonikha Deokar, Srishti Malla, Aakriti Kundlia, Tushar Kambale   +4 more
doaj   +1 more source

Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of dohi): First report from Iran

Indian Journal of Dermatology, 2009
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant genodermatosis, presenting in infancy or early childhood with areas of hyperpigmentation on dorsa of hands and feet.
Barzegari Massoumeh, Kiavash Katrin
doaj  

Dyschromatosis Unwersalis Hereditaria.

Indian journal of dermatology, venereology and leprology, 2017
A 50-year-old man had dyschromatosis universalis hereditaria manifesting as asymptomatic macular pigmentation and depigmentation present all over the body almost since birth. There was no atrophy or telangiectasis. In addition, the patient had associated features of solar elastotic syndrome.
Mohammed Ameen, Sait, B R, Garg
openaire   +1 more source

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report. [PDF]

Medicine (Baltimore), 2023
Yang Y, Jiang N, Mai JQ, Yang S, Xiao Y, Liu S.   +5 more
europepmc   +1 more source

Preventing transmission of dyschromatosis universalis hereditaria through preimplantation genetic testing: A case report. [PDF]

World J Clin Cases
Wang XL, Zou T, Wu YC, Weng YY, Yao Q, Sun WW.   +5 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

Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing. [PDF]

Front Pediatr, 2023
Ma Q, Che L, Chen Y, Gu Z.
europepmc   +1 more source