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 …

Most balanced chromosomal aberrations are not associated with a clinical phenotype,
however, in some patients they may disrupt gene structure. With the development of various …

Background Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar
vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although …

Human exocyst complex is an evolutionary conserved multimeric complex composed of
proteins encoded by eight genes EXOC1-EXOC8. It is known that the exocyst complex plays …

Background Rare, recurrent genomic imbalances facilitate the association of genotype with
abnormalities at the “whole body” level. However, at the cellular level, the functional …

Purpose The exocyst complex is a conserved protein complex that mediates fusion of
intracellular vesicles to the plasma membrane and is implicated in processes including cell …

The exocyst, an octameric protein complex, is an essential component of the membrane
transport machinery required for tethering and fusion of vesicles at the plasma membrane …

We describe a premature newborn child with left renal agenesis, right low functional kidney,
altered chemical-clinical parameters, neutropenia, recurrent pulmonary infections, long …

RNA exosome is a highly conserved ribonuclease complex essential for RNA processing
and degradation. Bi‐allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 …

The RNA exosome is an essential ribonuclease complex required for processing and/or
degradation of both coding and non-coding RNAs. We identified five patients with biallelic …