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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Haspeslagh, M., Fryns, J.P., Beusen, L. et al. The Coffin-Lowry syndrome. Eur J Pediatr 143, 82–86 (1984). https://doi.org/10.1007/BF00445790
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DOI: https://doi.org/10.1007/BF00445790