A proportion of individuals have missense mutations or small deletions in the X-linked gene, FLNA.

Of these, point mutations or small deletions in SLC20A2 are most common.

We observed that small deletions within the CREB-binding domain completely abolished transforming activity in RK3E epithelial cells.

In one patient, we identified several small deletions in the vicinity of the 8 kb DNA segment.

Here we describe genetic and psychometric testing of patients who have small deletions within the WS critical region.

Additionally, a hot spot for small deletions has been defined, and several gross rearrangements have also been described.

However, current methods for identifying deletions are time and labor intensive and are unable to efficiently detect small deletions.

We report identification of a novel small deletions mutation in the RUNX2 gene in a Chinese family with CCD.

We have identified the boss gene based on small deletions in mutant alleles and sequenced both cDNAs and corresponding genomic regions.

The seven cell lines without N-myc amplification have no deletions or relatively small deletions, with an SRO on 1p36.23-33.

Small deletions, insertions, or point mutations are not excluded by this analysis.