Case of Waardenburg Shah syndrome in a family with review of literature.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of otology"
DOI: 10.1016/j.joto.2018.05.005
Abstract: Abstract 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… read more here.
Keywords: syndrome family; case waardenburg; review literature; family review ... See more keywords
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric genetics"
DOI: 10.1055/s-0039-1693664
Abstract: Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old boy, born to consanguineous Lebanese parents, who… read more here.
Keywords: report new; family review; delineation trappc6b; disorder report ... See more keywords