Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.

Abstract excerpt

Tricho-rhino-phalangeal syndrome type I, an autosomal dominant condition, is caused by heterozygous pathogenic variants in a zinc finger transcription factor, TRPS1, which has important roles in development of endochondral bones, teeth, and hair. Clinical manifestations of the patients include short stature, sparse, fine and slow-growing scalp hair, bulbous nose, supernumerary teeth, hip dysplasia, brachydactyly,...

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