Published in
Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 12(26), p. 1784-1790, 2018
DOI: 10.1038/s41431-018-0217-0
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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome
Journal article published in 2018 by
Mathilde Pacault 
,
Marie Vincent,
Thomas Besnard ,
Caroline Kannengiesser,
Claire Bénéteau ,
Sébastien Barbarot ,
Xénia Latypova,
Khaldia Belabbas,
Antonin Lamazière,
Norbert Winer,
Madeleine Joubert,
Stéphane Bézieau ,
Bertrand Isidor,
Sandra Mercier,
Mathilde Nizon
and other authors.
,
Marie Vincent,
Thomas Besnard ,
Caroline Kannengiesser,
Claire Bénéteau ,
Sébastien Barbarot ,
Xénia Latypova,
Khaldia Belabbas,
Antonin Lamazière,
Norbert Winer,
Madeleine Joubert,
Stéphane Bézieau ,
Bertrand Isidor,
Sandra Mercier,
Mathilde Nizon
and other authors.
This paper is made freely available by the publisher.
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