Mustafa Tekin, M.D.
- Fax: 305-243-3991
- American Board of Medical Gen-Clinical Genetics (MD)
- American Board of Medical Gen-Clinical Molecular Genetics
- American Board of Medical Gen-Medical Biochemical Genetics
- Clinical Genetics(MD)-Medical Genetics
- Clinical Vice Chair, Dr. John T. Macdonald Foundation Department of Human Genetics
- Director, Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics
- Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
- Professor, John P. Hussman Institute for Human Genomics
- Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
- Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
- FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
- De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
- List of Publications
, M.D., a Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, is a board certified clinical and molecular geneticist and expert on phenotypic and genotypic characterization of a variety of Mendelian disorders. His laboratory has discovered numerous genes to cause human diseases when disrupted by mutations.