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Rare Diseases Volume 2, 2014 - Issue 1

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Addendum

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome

Katherina WalzDr. John T Macdonald Foundation; Department of Human Genetics; University of Miami; FL, USA;John P. Hussman Institute for Human Genomics; University of Miami; FL, USA;Department of Medicine; Miller School of Medicine; University of Miami; FL, USA

Juan I YoungDr. John T Macdonald Foundation; Department of Human Genetics; University of Miami; FL, USA;John P. Hussman Institute for Human Genomics; University of Miami; FL, USACorrespondence[email protected]

Article: e967151 | Received 08 Sep 2014, Accepted 11 Sep 2014, Published online: 03 Nov 2014

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https://doi.org/10.4161/2167549X.2014.967151
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Serena Buontempo, Pasquale Laise, James M. Hughes, Sebastiano Trattaro, Vivek Das, Chantal Rencurel & Giuseppe Testa. (2022) EZH2-Mediated H3K27me3 Targets Transcriptional Circuits of Neuronal Differentiation. Frontiers in Neuroscience 16.
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Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang & Joonhong Park. (2017) Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy. European Journal of Medical Genetics 60:10, pages 559-564.
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Justyna Horodyska, Ruth M. Hamill, Patrick F. Varley, Henry Reyer & Klaus Wimmers. (2017) Genome-wide association analysis and functional annotation of positional candidate genes for feed conversion efficiency and growth rate in pigs. PLOS ONE 12:6, pages e0173482.
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