A novel gene variant associated with trichorhinophalangeal syndrome has been identified in a dysmorphic child presenting with cone-shaped epiphyses. This discovery may enhance diagnostic approaches for this rare genetic condition.
dysmorphic child with cone shaped epiphyses a diagnostic approach and novel trichorhinophalangeal syndrome gene variant
Original title: “Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant.”