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Clinical variability of Stickler syndrome with aCOL2A1 haploinsufficiency mutation: implications for genetic counselling

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    FABER J, WINTERPACHT A, ZABEL B, et al
    Clinical variability of Stickler syndrome with aCOL2A1 haploinsufficiency mutation: implications for genetic counselling
    Journal of Medical Genetics 2000;37:318-320.

    Publication history

    • First published April 1, 2000.
    Online issue publication 
    April 27, 2016

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    Journal of Medical Genetics