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  • Title: Clinical and genetic heterogeneity in X-linked deafness.
    Author: Reardon W, Middleton-Price HR, Malcolm S, Phelps P, Bellman S, Luxon L, Martin JA, Bumby A, Pembrey ME.
    Journal: Br J Audiol; 1992 Apr; 26(2):109-14. PubMed ID: 1628115.
    Abstract:
    The use of molecular techniques in respect of the rare X-linked non-syndromic form of genetic deafness demonstrates that this is a genetically heterogeneous disorder, with evidence for at least two separate gene loci on the X chromosome. Audiological heterogeneity in this condition is emphasized by the observation of both mixed deafness and sensorineural deafness in pedigrees showing evidence for linkage to Xq13-q21. The importance and shortcomings of the audiogram in assessing females who are known gene carriers is discussed.
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