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  • Title: X-linked midline defects.
    Author: Toriello HV, Higgins JV.
    Journal: Am J Med Genet; 1985 May; 21(1):143-6. PubMed ID: 4039891.
    Abstract:
    Opitz and Gilbert [Am J Med Genet 12:443-455, 1982] have postulated that the midline may be a kind of developmental field. Although developmental field defects (primary malformations) usually occur sporadically, in some instances they can be caused by a single gene mutation. We report on a family in which the occurrence of midline defects was consistent with X-linked inheritance. Anomalies present in the family include hydrocephalus, anencephaly, cleft lip, congenital heart defect, renal agenesis, and hypospadias.
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