ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features

@inproceedings{alayan2017ALPK3GM,
  title={ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features},
  author={Ahmet Okay Çağlayan and Rabia Gonul Sezer and Hande Kaymakçalan and Ege Ulgen and Taner Yavuz and Jacob F. Baranoski and Abdulkadir Bozaykut and Akdes Serin Harmanci and Yalim Yalçin and Mark W. Youngblood and Katsuhito Yasuno and Kaya Bilg{\"u}var and Murat Gunel},
  booktitle={Cold Spring Harbor molecular case studies},
  year={2017}
}
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool… CONTINUE READING