Facial phenotype allows diagnosis of Mowat–Wilson syndrome in the absence of hirschsprung disease

Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1“Mowat‐Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies‐mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene2002 · 130 citations
2. 2Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.1998 · 273 citations
3. 3Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease2001 · 234 citations