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  • Title: Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.
    Author: Brueton LA, Reeve A, Ellis R, Husband P, Thompson EM, Kingston HM.
    Journal: Am J Med Genet; 1992 Jun 01; 43(3):612-8. PubMed ID: 1605259.
    Abstract:
    Cleidocranial dysplasia is an autosomal dominant, generalised skeletal disorder characterised by variable clavicular hypoplasia, frontal bossing, multiple Wormian bones, and delayed eruption of the teeth. The gene locus for this syndrome has not yet been assigned. Three individuals with manifestations of cleidocranial dysplasia associated with rearrangements of chromosome 8q22 are described. The evidence presented suggests that the gene for cleidocranial dysplasia may be located on chromosome 8q in humans in a region showing homology to mouse chromosome 3.
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