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skos:definition |
NCI: A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation.,JABL: Cone-shaped epiphyses, sparse hypopigmented hair, bulbous nose, variable growth retardation, and occasional mental retardation.
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