Summary
Two brothers with Coffin syndrome are presented and the fifteen other cases available in the literature are reviewed. The molecular defect causing this clinically recognizable syndrome is unknown, and the mode of inheritance may be a sex-linked recessive, but a sex-limited autosomal dominant or autosomal dominant with variable degree of expression cannot be fully excluded at the present time.
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References
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Fryns, J.P., Vinken, L. & van den Berghe, H. The Coffin syndrome. Hum Genet 36, 271–276 (1977). https://doi.org/10.1007/BF00446276
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DOI: https://doi.org/10.1007/BF00446276