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Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.
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?
Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations.