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  • Title: Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
    Author: Hamel BC, Smits AP, van den Helm B, Smeets DF, Knoers NV, van Roosmalen T, Thoonen GH, Assman-Hulsmans CF, Ropers HH, Mariman EC, Kremer H.
    Journal: Am J Med Genet; 1999 Jul 30; 85(3):290-304. PubMed ID: 10398246.
    Abstract:
    Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.
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