An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue European Journal of Human Genetics Année : 2014

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

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hal-02118633 , version 1 (03-05-2019)

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Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, Victoria Greze, Stephan Kemeny, et al.. An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3. European Journal of Human Genetics, 2014, 22 (3), pp.369-373. ⟨10.1038/ejhg.2013.141⟩. ⟨hal-02118633⟩
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