Mosaic deletion of EXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability

C Evers, B Maas, KA Koch, A Jauch… - American Journal of …, 2014 - Wiley Online Library
We describe a boy with developmental delay, speech delay, and minor dysmorphic features
with a heterozygous de novo∼ 460 kb deletion at 2p13. 2 involving only parts of EXOC6B …
被引用次数：22 相关文章

Mosaic deletion of EXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability

C Evers, B Maas, KA Koch, A Jauch… - American Journal of …, 2014 - infona.pl
We describe a boy with developmental delay, speech delay, and minor dysmorphic features
with a heterozygous de novo∼ 460 kb deletion at 2p13. 2 involving only parts of EXOC6B …

Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability

C Evers, B Maas, KA Koch, A Jauch… - … journal of medical …, 2014 - pubmed.ncbi.nlm.nih.gov
We describe a boy with developmental delay, speech delay, and minor dysmorphic features
with a heterozygous de novo∼ 460 kb deletion at 2p13. 2 involving only parts of EXOC6B …

Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

C Evers, B Maas, KA Koch, A Jauch… - American Journal of …, 2014 - europepmc.org
We describe a boy with developmental delay, speech delay, and minor dysmorphic features
with a heterozygous de novo∼ 460 kb deletion at 2p13. 2 involving only parts of EXOC6B …
[PDF] academia.edu

[PDF][PDF] Mosaic Deletion of EXOC6B: Further Evidence for An Important Role of the Exocyst Complex in the Pathogenesis of Intellectual Disability

C Evers, B Maas, KA Koch, A Jauch, JWG Janssen… - 2014 - academia.edu
Ten to fourteen percent of intellectual disability (ID) is caused by submicroscopic
chromosome deletions or duplications [Hochstenbach et al., 2011]. Based on recent studies …