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skos:definition |
JABL: A relatively mild form of acrocephalosyndactyly with a variable pattern of craniofacial, digital, and bone abnormalities.,NCI: A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.
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