Skip to Main content Skip to Navigation

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

Complete list of metadatas

https://hal.archives-ouvertes.fr/hal-02118633
Contributor : Anne Debost-Legrand <>
Submitted on : Friday, May 3, 2019 - 11:14:08 AM
Last modification on : Friday, November 8, 2019 - 10:54:24 AM

Links full text

Identifiers

Citation

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, Nature Publishing Group, 2014, 22 (3), pp.369-373. ⟨10.1038/ejhg.2013.141⟩. ⟨hal-02118633⟩

Share

Metrics

Record views

80