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  • Title: Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset.
    Author: de Ravel TJ, De Smet L, Fryns JP.
    Journal: Clin Dysmorphol; 2002 Oct; 11(4):261-6. PubMed ID: 12401991.
    Abstract:
    We report a family in which an apparently previously undescribed form of Spondyloepimetaphyseal dysplasia (SEMD) presented after probable gonadal mosaicism occurred and is inherited in an autosomal dominant mode. The other autosomal dominant SEMDs are compared.
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