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Page 1
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O'Donnell S, Burgess T, Shaw M, Gecz J, Bain N, Fagan K, Hunter MF. Le Fevre AK, et al. Am J Med Genet A. 2013 Dec;161A(12):3166-75. doi: 10.1002/ajmg.a.36174. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214399
In vivo targeting of miR-223 in experimental eosinophilic oesophagitis.
Collison AM, Sokulsky LA, Nightingale S, Percival E, LeFevre A, Meredith J, Krauss S, Foster PS, Mattes J. Collison AM, et al. Clin Transl Immunology. 2020 Nov 23;9(11):e1210. doi: 10.1002/cti2.1210. eCollection 2020. Clin Transl Immunology. 2020. PMID: 33282292 Free PMC article.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ. Van Bergen NJ, et al. Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986. Int J Mol Sci. 2022. PMID: 35055180 Free PMC article.