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Down syndrome and aberrant right subclavian artery.
Roofthooft MT, van Meer H, Rietman WG, Ebels T, Berger RM. Roofthooft MT, et al. Eur J Pediatr. 2008 Sep;167(9):1033-6. doi: 10.1007/s00431-007-0637-2. Epub 2008 Jan 3. Eur J Pediatr. 2008. PMID: 18172685 Free PMC article.
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, Berger RM. Kerstjens-Frederikse WS, et al. Among authors: roofthooft mt. J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16. J Med Genet. 2013. PMID: 23592887 Free PMC article.
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