Characteristics of xeroderma pigmentosum in Japan: lessons from two clinical surveys and measures for patient care
C Nishigori, E Nakano, T Masaki, R Ono… - Photochemistry and …, 2019 - Wiley Online Library
Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease caused by
deficiency in repair of DNA lesions generated by ultraviolet radiation and other compounds …
deficiency in repair of DNA lesions generated by ultraviolet radiation and other compounds …
Dyschromatosis universalis hereditaria
AB Murthy, V Palaniappan… - International journal …, 2023 - Wiley Online Library
Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis
hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH)(Reticulate …
hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH)(Reticulate …
[HTML][HTML] Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria
L Cao, R Zhang, L Yong, S Chen, H Zhang… - BMC Medical …, 2021 - Springer
Background Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis
characterized by generalized mottled macules with hypopigmention and hyperpigmention …
characterized by generalized mottled macules with hypopigmention and hyperpigmention …
[HTML][HTML] Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation …
N Wu, L Tang, X Li, Y Dai, X Zheng, M Gao… - Frontiers in …, 2020 - frontiersin.org
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by
mottled hyperpigmented and hypopigmented macules. SASH1 and ABCB6 have been …
mottled hyperpigmented and hypopigmented macules. SASH1 and ABCB6 have been …
Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation
W Zhong, Y Pan, Y Shao, Y Yang… - Clinical and …, 2019 - academic.oup.com
We present a familial case of DUH with autosomaldominant pigmentary disorder in a patient
of Chinese Han ethnicity. The proband was a 23-year-old woman (Fig. 1a) who had been …
of Chinese Han ethnicity. The proband was a 23-year-old woman (Fig. 1a) who had been …
[HTML][HTML] Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C
JI Seo, C Nishigori, JJ Ahn, JY Ryu, J Lee, MH Lee… - Medicina, 2023 - mdpi.com
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma
pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous …
pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous …
[HTML][HTML] Xeroderma Pigmentosum in a Pediatric Patient with a Progressive Pterygium-like Lesion
JB Park, S Nam, S Bang, KH Jin - Journal of the Korean Ophthalmological …, 2021 - jkos.org
2 세 여아가 자주 눈을 깜빡거리는 증상과 피부에 발생한 갈색 반점을 주소로 내원하였다. 경과
관찰 중 7 세 때 일본에서 색소건피증으로 확진 받았고, 양안 상하안검의 색소침착이 …
관찰 중 7 세 때 일본에서 색소건피증으로 확진 받았고, 양안 상하안검의 색소침착이 …
진행하는군날개유사병변을동반한소아색소건피증
박종범， 남상휴， 방슬기， 진경현 - 대한안과학회지, 2021 - oldkmbase.medric.or.kr
Go to contents Go to menu 잠시만 기다려 주세요. 로딩중입니다. 의과학연구정보센터 advanced
검색어 입력 홈 로그인 즐겨찾기추가 ENGLlSH 논문검색 고급검색 저널별검색 원문제공 저널별 …
검색어 입력 홈 로그인 즐겨찾기추가 ENGLlSH 논문검색 고급검색 저널별검색 원문제공 저널별 …