Disease: Hirschsprung nail hypoplasia dysmorphism
- A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors
- Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations
- Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis
- Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?
- Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient