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 …