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  • Title: Familial tricho-rhino-phalangeal syndrome Type II.
    Author: Murachi S, Nogami H, Oki T, Ogino T.
    Journal: Clin Genet; 1981 Mar; 19(3):149-55. PubMed ID: 6974063.
    Abstract:
    Two cases, a father and daughter, with all the principal signs of tricho-rhino-phalangeal syndrome Type II are described, although nine previously reported cases were all sporadic. It is suggested that these patients have a genetic disorder with an autosomal dominant mode of inheritance. It may be reasonable to assume that a patient with relatively mild mental retardation, such as the father in the present report, could marry and have off-spring. Generalized aminoaciduria was found in the affected daughter.
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