MON-512 A De Novo Frameshift Mutation of FAM111B Gene Resulting in Progressive Osseous Heteroplasia in an African American Boy: First Case Report
Author:
Affiliation:
1. Chiang Mai University, Chiang Mai, , Thailand
2. Children's Hospital LA, Los Angeles, CA, United States
3. Dept of Endo & Metab, Children's Hospital LA, Los Angeles, CA, United States
Publisher
The Endocrine Society
Subject
Endocrinology, Diabetes and Metabolism
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening;Cancer Treatment and Research Communications;2023
2. A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome;Egyptian Journal of Medical Human Genetics;2022-12-25
3. Proposed Cellular Function of the Human FAM111B Protein and Dysregulation in Fibrosis and Cancer;Frontiers in Oncology;2022-07-04
4. Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases;Experimental Dermatology;2022-02-13
5. Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition;Genetics and Molecular Biology;2021
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