Denisa Guraj
Publications of : Denisa Guraj
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
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 TWIST1 gene lies in a conserved residue .. Read More»
Genet. Mol. Res. 16(4): gmr16039828
DOI: 10.4238/gmr16039828
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Citations : 56184
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