Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Hennekam Syndrome[original query] |
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Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. American journal of medical genetics. Part A 2019 10 182 (1): 189-194. Boone Philip M, Paterson Scott, Mohajeri Kiana, Zhu Wenmiao, Genetti Casie A, Tai Derek J C, Nori Neeharika, Agrawal Pankaj B, Bacino Carlos A, Bi Weimin, Talkowski Michael E, Hogan Benjamin M, Rodan Lance |
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. American journal of medical genetics. Part A 2021 10 188 (2): 446-453. Nishi Eriko, Takenouchi Toshiki, Miya Fuyuki, Uehara Tomoko, Yanagi Kumiko, Hasegawa Yuiko, Ueda Kimiko, Mizuno Seiji, Kaname Tadashi, Kosaki Kenjiro, Okamoto Nobuhi |
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- Page last updated:May 13, 2024
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