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268 results

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Page 1
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.
Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia …
Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patc …
Waardenburg Syndrome.
Ahmed jan N, Mui RK, Masood S. Ahmed jan N, et al. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32809714 Free Books & Documents.
Waardenburg syndrome (WS) is a group of genetic conditions inherited in an autosomal dominant fashion. ...As it is a genetic disease, there is no definitive treatment for Waardenburg syndrome, but supportive treatment with cochlear implants and …
Waardenburg syndrome (WS) is a group of genetic conditions inherited in an autosomal dominant fashion. ...As it is a ge …
Waardenburg syndrome.
Read AP, Newton VE. Read AP, et al. J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. J Med Genet. 1997. PMID: 9279758 Free PMC article. Review.
Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mu …
Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but …
Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan.
Khan TA, Safdar CA, Zameer S, Khushdil A. Khan TA, et al. Perioper Med (Lond). 2020 Jan 24;9:4. doi: 10.1186/s13741-019-0135-x. eCollection 2020. Perioper Med (Lond). 2020. PMID: 31998473 Free PMC article.
Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung's disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. ...
Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung' …
Waardenburg syndrome.
Konno P, Silm H. Konno P, et al. J Eur Acad Dermatol Venereol. 2001 Jul;15(4):330-3. J Eur Acad Dermatol Venereol. 2001. PMID: 11730045
Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterized by pigmentary anomalies and various defects of neural crest derived tissues. We report a very interesting case of type 1 WS (WS 1) in an adult who presente …
Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterized by pigmentary anomalies and v …
Case of Waardenburg Shah syndrome in a family with review of literature.
Chandra Mohan SLN. Chandra Mohan SLN. J Otol. 2018 Sep;13(3):105-110. doi: 10.1016/j.joto.2018.05.005. Epub 2018 Jun 8. J Otol. 2018. PMID: 30559775 Free PMC article. Review.
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 Waar …
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Dependi …
Waardenburg-Shah syndrome rare and challenging case report from Somalia.
Abdi AM, Ali AY, Göl IH. Abdi AM, et al. Int J Surg Case Rep. 2022 Apr;93:106952. doi: 10.1016/j.ijscr.2022.106952. Epub 2022 Mar 15. Int J Surg Case Rep. 2022. PMID: 35313185 Free PMC article.
Babies born with Waardenburg syndrome may have typical features of hair, skin and eye pigmentary abnormalities, and hearing loss. ...CONCLUSION: Shah-Waardenburg syndrome TYPE-4 is a relatively unusual syndrome characterized by a higher prevalen …
Babies born with Waardenburg syndrome may have typical features of hair, skin and eye pigmentary abnormalities, and hearing lo …
Hearing loss in Waardenburg syndrome: a systematic review.
Song J, Feng Y, Acke FR, Coucke P, Vleminckx K, Dhooge IJ. Song J, et al. Clin Genet. 2016 Apr;89(4):416-425. doi: 10.1111/cge.12631. Epub 2015 Jul 17. Clin Genet. 2016. PMID: 26100139 Review.
Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL) and pigment disturbances of hair, skin and iris. ...We performed a systematic review in search for articles describing auditory features in WS patients along with t …
Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL) and pigment disturbances of hai …
Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.
Huang S, Song J, He C, Cai X, Yuan K, Mei L, Feng Y. Huang S, et al. Gene Ther. 2022 Sep;29(9):479-497. doi: 10.1038/s41434-021-00240-2. Epub 2021 Feb 25. Gene Ther. 2022. PMID: 33633356 Review.
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for approximately 2-5% of all patients with congenital hearing loss. WS is classified into four subtyp …
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hea …
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP. Liu XZ, et al. Am J Med Genet. 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. Am J Med Genet. 1995. PMID: 7702105 Review.
The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. ...Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. ...
The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. ...Other gene( …
268 results