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  • Title: The Coffin-Lowry syndrome. A study of two new index patients and their families.
    Author: Haspeslagh M, Fryns JP, Beusen L, Van Dessel F, Vinken L, Moens E, Van den Berghe H.
    Journal: Eur J Pediatr; 1984 Dec; 143(2):82-6. PubMed ID: 6519116.
    Abstract:
    Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome.
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