Mustafa Tekin, M.D.
- 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
- MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
- A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
- GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.
- Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
- Advances in hereditary deafness.
- 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.