Mustafa Tekin, M.D.
- American Board of Medical Gen-Clinical Genetics (MD)
- American Board of Medical Gen-Clinical Biochemical Genetics
- Clinical Genetics(MD)-Medical 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
Mustafa Tekin, M.D., a Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, is a board certified clinical geneticist and expert on phenotypic and genotypic characterization of a variety of Mendelian disorders with a particular emphasis on hearing loss. His laboratory has discovered mutations in SERPINB6, FGF3, and MASP1 as causes of nonsyndromic and syndromic forms of hearing loss and demonstrated the fundamental roles the products of these genes play during embryonic development and for the maintenance of physiological functions.