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  • Title: Brief clinical report: HARD (+/- E) syndrome: report of a sixth family with support for autosomal-recessive inheritance.
    Author: Aymé S, Mattei JF.
    Journal: Am J Med Genet; 1983 Apr; 14(4):759-66. PubMed ID: 6405616.
    Abstract:
    We report on two sibs with hydrocephalus, encephalocele, agyria and ocular anomalies, an association known as the HARD +/- E syndrome. This is thought to be the sixth reported family and third instance of familial occurrence of this autosomal-recessive syndrome which deserves consideration in the nosology of every case of neural tube defect (hydrocephalus).
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