Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR

Silvia Galbiati; Stefania Stenirri; Luca Sbaiz; Marco Barberis; Laura Cremonesi; Gabriella Restagno; Maurizio Ferrari

doi:10.1515/cclm-2013-1116

Published by De Gruyter April 4, 2014

Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR

Silvia Galbiati , Stefania Stenirri , Luca Sbaiz , Marco Barberis , Laura Cremonesi , Gabriella Restagno and Maurizio Ferrari

From the journal Clinical Chemistry and Laboratory Medicine (CCLM)

https://doi.org/10.1515/cclm-2013-1116

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Corresponding author: Silvia Galbiati, San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Via Olgettina 60, 20132 Milan, Italy, Phone: + 39 02 26434358, Fax: + 39 02 26434351, E-mail: galbiati.silvia@hsr.it

aGabriella Restagno and Maurizio Ferrari contributed equally to this work.

References

1. Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, et al. Genetic heterogeneity of Sathre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 1998;62:1370–80.10.1086/301855Search in Google Scholar PubMed PubMed Central

2. Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, et al. A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutat 2001;18:535–41.10.1002/humu.1230Search in Google Scholar PubMed

Received: 2013-12-30

Accepted: 2014-1-8

Published Online: 2014-4-4

Published in Print: 2014-7-1

Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR

References

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