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  • Title: Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
    Author: Miny P, Lenz W.
    Journal: Am J Med Genet; 1985 Jun; 21(2):317-24. PubMed ID: 4014313.
    Abstract:
    We report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia.
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