Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Proteus Syndrome[original query] |
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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. Journal of medical genetics 2005 Apr 42 (4): 318-21. Butler M G, Dasouki M J, Zhou X-P, Talebizadeh Z, Brown M, Takahashi T N, Miles J H, Wang C H, Stratton R, Pilarski R, Eng |
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Jun 144B (4): 484-91. Buxbaum Joseph D, Cai Guiqing, Chaste Pauline, Nygren Gudrun, Goldsmith Juliet, Reichert Jennifer, Anckarsäter Henrik, Rastam Maria, Smith Christopher J, Silverman Jeremy M, Hollander Eric, Leboyer Marion, Gillberg Christopher, Verloes Alain, Betancur Catali |
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants. Orphanet journal of rare diseases 2020 Oct 15 (1): 288. Tian Wen, Huang Yingzhao, Sun Liying, Guo Yang, Zhao Sen, Lin Mao, Dong Xiying, Zhong Wenyao, Yin Yuehan, Chen Zefu, Zhang Nan, Zhang Yuanqiang, Wang Lianlei, Lin Jiachen, Yan Zihui, Yang Xinzhuang, Zhao Junhui, Qiu Guixing, Zhang Jianguo, Wu Zhihong, Wu Nan, |
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations. Orphanet journal of rare diseases 2023 9 18 (1): 261. Bin Zhang, Rui He, Zigang Xu, Yujuan Sun, Li Wei, Li Li, Yuanxiang Liu, Wu Guo, Li Song, Huijun Wang, Zhimiao Lin, Lin |
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