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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Deafness and CLDN14[original query]
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Clinical genetics 2016 Sep .
Faridi Rabia, Rehman Atteeq U, Morell Robert J, Friedman Penelope L, Demain Leigh, Zahra Sana, Khan Asma Ali, Tohlob Dalia, Assir Muhammad Zaman, Beaman Glenda, Khan Shaheen N, Newman William G, Riazuddin Sheikh, Friedman Thomas
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Human genetics 2016 Nov .
Pater Justin A, Benteau Tammy, Griffin Anne, Penney Cindy, Stanton Susan G, Predham Sarah, Kielley Bernadine, Squires Jessica, Zhou Jiayi, Li Quan, Abdelfatah Nelly, O'Rielly Darren D, Young Terry-Ly
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
International journal of molecular sciences 2019 9 20 (18): .
Kitano Tomohiro, Kitajiri Shin-Ichiro, Nishio Shin-Ya, Usami Shin-Ic
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