Mutations specific to the Rac-GEF domain of \textitTRIO cause intellectual disability and microcephaly

Reuben J Pengelly (1) , Stephanie Greville-Heygate (2) , Susanne Schmidt (3) , Eleanor G Seaby (1) , M Reza Jabalameli (1) , Sarju G Mehta (4) , Michael J Parker (5) , David Goudie (6) , Christine Fagotto-Kaufmann (3) , Catherine Mercer (2) , Anne Debant (3) , Sarah Ennis (1) , Diana Baralle (2, 7)

1 University of Southampton
2 Genetics
3 CRBM - Centre de recherche en Biologie cellulaire de Montpellier
4 Wessex Clinical Genetics Service
5 Sheffield Children's NHS Foundation Trust
6 Ninewells Hospital and Medical School [Dundee]
7 Medical Genetics

Domaines: Biologie cellulaire; Biochimie, Biologie Moléculaire

Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, Eleanor G Seaby, M Reza Jabalameli, et al.. Mutations specific to the Rac-GEF domain of \textitTRIO cause intellectual disability and microcephaly. Journal of Medical Genetics, 2016, 53 (11), pp.735--742. ⟨10.1136/jmedgenet-2016-103942⟩. ⟨hal-01878037⟩