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PubMed (OMIM) for id: 10265

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Page 1
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Mégarbané A, Hana S, Mégarbané H, Castro C, Baulande S, Criqui A, Roëckel-Trevisiol N, Dagher C, Al-Ali MT, Desvignes JP, Mahfoud D, El-Hayek S, Delague V. Mégarbané A, et al. Mol Syndromol. 2021 Oct;12(6):342-350. doi: 10.1159/000517253. Epub 2021 Aug 31. Mol Syndromol. 2021. PMID: 34899143 Free PMC article.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M, Dehmelt FA, Arrenberg AB, Sliesoraityte I, Zrenner E, van Schooneveld MJ, Rudolph G, Kühlewein L, Wissinger B. Kohl S, et al. Hum Mol Genet. 2021 Jun 17;30(13):1218-1229. doi: 10.1093/hmg/ddab117. Hum Mol Genet. 2021. PMID: 33891002 Free PMC article.
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
Claussnitzer M, Dankel SN, Kim KH, Quon G, Meuleman W, Haugen C, Glunk V, Sousa IS, Beaudry JL, Puviindran V, Abdennur NA, Liu J, Svensson PA, Hsu YH, Drucker DJ, Mellgren G, Hui CC, Hauner H, Kellis M. Claussnitzer M, et al. N Engl J Med. 2015 Sep 3;373(10):895-907. doi: 10.1056/NEJMoa1502214. Epub 2015 Aug 19. N Engl J Med. 2015. PMID: 26287746 Free PMC article.
The homeodomain transcription factor Irx5 establishes the mouse cardiac ventricular repolarization gradient.
Costantini DL, Arruda EP, Agarwal P, Kim KH, Zhu Y, Zhu W, Lebel M, Cheng CW, Park CY, Pierce SA, Guerchicoff A, Pollevick GD, Chan TY, Kabir MG, Cheng SH, Husain M, Antzelevitch C, Srivastava D, Gross GJ, Hui CC, Backx PH, Bruneau BG. Costantini DL, et al. Cell. 2005 Oct 21;123(2):347-58. doi: 10.1016/j.cell.2005.08.004. Cell. 2005. PMID: 16239150 Free PMC article.