Twist1
Human Genetics Research Article
A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre�Chotzen syndrome
Authors: Elena Manara, Denisa Guraj, Francesca Fanelli, Paolo E Maltese, Anila Babameto-Laku, Natale Capodicasa , Sandro Michelini, Bruno Amato, Matteo Bertelli
A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syndromic form of craniosynostosis. The identified pathogenic variant in the .. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039828
- DOI:
- 10.4238/gmr16039828