Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Perrault Syndrome[original query] |
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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 Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. Journal of clinical research in pediatric endocrinology 2016 Apr . Dursun Fatma, Mohamoud Hussein Sheikh Ali, Karim Noreen, Naeem Muhammad, Jelani Musharraf, K?rm?z?bekmez Hev |
Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports 2019 8 9 (1): 11976. Ideura Michie, Nishio Shin-Ya, Moteki Hideaki, Takumi Yutaka, Miyagawa Maiko, Sato Teruyuki, Kobayashi Yumiko, Ohyama Kenji, Oda Kiyoshi, Matsui Takamichi, Ito Tsukasa, Suzumura Hiroshi, Nagai Kyoko, Izumi Shuji, Nishiyama Nobuhiro, Komori Manabu, Kumakawa Kozo, Takeda Hidehiko, Kishimoto Yoko, Iwasaki Satoshi, Furutate Sakiko, Ishikawa Kotaro, Fujioka Masato, Nakanishi Hiroshi, Nakayama Jun, Horie Rie, Ohta Yumi, Naito Yasushi, Kakudo Mariko, Sakaguchi Hirofumi, Kataoka Yuko, Sugahara Kazuma, Hato Naohito, Nakagawa Takashi, Tsuchihashi Nana, Kanda Yukihiko, Kihara Chiharu, Tono Tetsuya, Miyanohara Ikuyo, Ganaha Akira, Usami Shin-Ic |
[Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 5 36 (6): 577-580. Duan Xiaohui, Wang Wei, Dong Mingrui, Wang Lu, Shao Ziqiang, Wang Zhaoxia, Yuan Yun, Wang Renbin, Peng Dant |
[Analysis of TWNK variant in a family affected with Perrault syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 7 37 (7): 739-742. Chen Zihui, Tang Shaohua, Li Huanzheng, Xu Xueqin, Lyu Jianx |
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