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Hirschsprung disease.
Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A. Montalva L, et al. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. doi: 10.1038/s41572-023-00465-y. Nat Rev Dis Primers. 2023. PMID: 37828049 Review.
Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the mo …
Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg synd …
Cartilage-hair hypoplasia with T-cell dysfunction.
Tomomasa D, Sato T, Hasegawa T, Morio T, Kanegane H. Tomomasa D, et al. Pediatr Int. 2022 Jan;64(1):e15080. doi: 10.1111/ped.15080. Pediatr Int. 2022. PMID: 35278261 No abstract available.
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.
Biggs CM, Kostjukovits S, Dobbs K, Laakso S, Klemetti P, Valta H, Taskinen M, Mäkitie O, Notarangelo LD. Biggs CM, et al. J Clin Immunol. 2017 Aug;37(6):508-510. doi: 10.1007/s10875-017-0408-4. Epub 2017 Jun 19. J Clin Immunol. 2017. PMID: 28631025 Free PMC article. No abstract available.
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia.
Kostjukovits S, Klemetti P, Föhr A, Kajosaari M, Valta H, Taskinen M, Toiviainen-Salo S, Mäkitie O. Kostjukovits S, et al. J Allergy Clin Immunol. 2017 Jan;139(1):375-378. doi: 10.1016/j.jaci.2016.07.023. Epub 2016 Aug 24. J Allergy Clin Immunol. 2017. PMID: 27568079 No abstract available.
69 results