Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

@article{alayan2013WholeexomeSI,
  title={Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.},
  author={Ahmet Okay Çağlayan and H{\"u}seyin Per and Gozde T Akgumus and Hatice Gumus and Jacob F. Baranoski and Mehmet Canpolat and Mustafa Calik and Ali Yikilmaz and Kaya Bilguvar and Sefer Kumandaş and Murat Gunel},
  journal={Clinical genetics},
  year={2013},
  volume={84 4},
  pages={394-5}
}