Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Dystopia canthorum"'
Autor:
Rakshit Agrawal, Shweta Walia
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2679-2681 (2022)
Externí odkaz:
https://doaj.org/article/a0baa6b9aeaf4ec89372fc45011c0d0a
Autor:
, editor, , editor
Publikováno v:
MCQs for ENT : Preparation for the FRCS (ORL-HNS), 2019.
Externí odkaz:
https://doi.org/10.1093/oso/9780198792000.003.0015
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Asian Journal of Pediatric Research. :1-4
Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a049a3c000f36444688a13d7ad131b4b
https://doi.org/10.9734/ajpr/2019/v2i430113
https://doi.org/10.9734/ajpr/2019/v2i430113
Autor:
Tetsuya Takiguchi, Noriko Morimoto, Shujiro Minami, Hirokazu Sakamoto, Kiyomitsu Nara, Hideki Mutai, Kimitaka Kaga, Tatsuo Matsunaga
Publikováno v:
Gene. 704:86-90
The purpose of this study is to profile the clinical and genetic features of Japanese Waardenburg syndrome (WS) patients and validate the W index. Sixteen Japanese WS families with congenital sensorineural hearing loss were included in the study. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d92c53d8800cc80c5baa6f2f5d61c965
https://doi.org/10.1016/j.gene.2019.04.023
https://doi.org/10.1016/j.gene.2019.04.023
Autor:
Setty.L.N. Chandra Mohan
Publikováno v:
Journal of Otology, Vol 13, Iss 3, Pp 105-110 (2018)
Journal of Otology
Journal of Otology
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a83656a76f74ae720b9eab7a0a86788
http://www.sciencedirect.com/science/article/pii/S1672293018300060
http://www.sciencedirect.com/science/article/pii/S1672293018300060
Publikováno v:
Postgraduate medical journal. 95(1120)
A 30-year-old woman presented to us for the treatment of post acne scars. On examination, she was observed to have broad nasal root and unusually large intercanthal distance (dystopia canthorum, figure 1). On closer inspection with a dermatoscope, he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe477f94e0cfb36d81c2b845a765003
https://pubmed.ncbi.nlm.nih.gov/30373908
https://pubmed.ncbi.nlm.nih.gov/30373908
Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome
Publikováno v:
Rutherford, Audrey; Glass II, Donald A; & Agim, Nnenna G. (2018). Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome. Dermatology Online Journal, 24(2). Retrieved from: http://www.escholarship.org/uc/item/0mg507j9
Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum. There are four main types of WS, which can be commonly caused by mutations in the PAX3, MITF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f50e6dc91eea3c9d40f30095c8e1fa
http://www.escholarship.org/uc/item/0mg507j9
http://www.escholarship.org/uc/item/0mg507j9
Publikováno v:
JAMA Ophthalmology. 137:e185508
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c17107d3fb99c502a1c01d4e13884b95
https://doi.org/10.1001/jamaophthalmol.2018.5508
https://doi.org/10.1001/jamaophthalmol.2018.5508