Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
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| Description | scientific article published on 25 December 2013 |
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author: Matteo Gorza Katharina Danhauser Robert Kopajtich Gudrun Schottmann Valentina Strecker Uwe Ahting Birgit Haberberger Ekkehard Wilichowski Urania Kotzaeridou Richard J Rodenburg Ilka Wittig Markus Schuelke Saskia B Wortmann Thomas Wieland Johannes A Mayr Wolfgang Sperl Tobias B Haack Peter Freisinger Barbara Plecko Tim M Strom Yasin Memari Thomas Meitinger Holger Prokisch |
| Publication date | December 25, 2013 |
| Language | English |
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