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Germinal mosaicism in Crouzon syndrome

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Summary

Two sibs with classic Crouzon syndrome of the same mother but different fathers are presented as an example of germinal mosaicism in a known autosomal dominant disorder. The mother and both fathers were completely normal.

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Kreiborg, S., Cohen, M.M. Germinal mosaicism in Crouzon syndrome. Hum Genet 84, 487–488 (1990). https://doi.org/10.1007/BF00195827

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  • DOI: https://doi.org/10.1007/BF00195827

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