Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Bohring-opitz Syndrome[original query] |
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The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clinical case reports 2018 8 6 (8): 1452-1456. Urreizti Roser, Gürsoy Semra, Castilla-Vallmanya Laura, Cunill Guillem, Rabionet Raquel, Erçal Derya, Grinberg Daniel, Balcells Susa |
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. European journal of medical genetics 2020 11 64 (1): 104107. Yu Kris Pui-Tak, Luk Ho-Ming, Fung Jasmine L F, Chung Brian Hon-Yin, Lo Ivan Fai-M |
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- Page last updated:May 13, 2024
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