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Licensed Unlicensed Requires Authentication Published by De Gruyter January 29, 2014

Reply to the article entitled “Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report” by Galbiati et al., Clin Chem Lab Med 2014;52(4):505–9

Carlos I. Rivera-Pedroza and Karen E. Heath

Corresponding author: Dr. Carlos I. Rivera-Pedroza, Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, P° Castellana 261, 28046 Madrid, Spain, Phone: +34 91 2071010 Ext 269, Fax: +34 91 2071040, E-mail:

References

1. Galbiati S, Stenirri S, Sbaiz L, Barberis M, Cremonesi L, Restagno G, et al. Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report. Clin Chem Lab Med 2014;52:505–9.10.1515/cclm-2013-0757Search in Google Scholar

2. El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, et al. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genet 1997;15:42–6.10.1038/ng0197-42Search in Google Scholar

3. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz De Luna RI, et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet 1997;15:36–41.10.1038/ng0197-36Search in Google Scholar

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

5. Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, et al. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet 2013;45:304–7.10.1038/ng.2531Search in Google Scholar

Received: 2013-12-12
Accepted: 2014-1-8
Published Online: 2014-1-29
Published in Print: 2014-7-1

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