Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

We describe the characterization of a gene for mild nonsyndromic autosomal recessive intellectual disability (ID) in two unrelated families, one from Austria, the other from Pakistan. Genome-wide single nucleotide polymorphism microarray analysis enabled us to define a region of homozygosity by desc...

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Veröffentlicht in:Human molecular genetics 2014-08, Vol.23 (15), p.4015-4023
Hauptverfasser: Bernkopf, Marie, Webersinke, Gerald, Tongsook, Chanakan, Koyani, Chintan N, Rafiq, Muhammad A, Ayaz, Muhammad, Müller, Doris, Enzinger, Christian, Aslam, Muhammad, Naeem, Farooq, Schmidt, Kurt, Gruber, Karl, Speicher, Michael R, Malle, Ernst, Macheroux, Peter, Ayub, Muhammad, Vincent, John B, Windpassinger, Christian, Duba, Hans-Christoph
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Sprache:eng
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