Sentences with phrase «with nonsyndromic»

We performed exome sequencing in 13 parent - offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2.

Additionally, when the researchers checked their network against the DNA of patients with nonsyndromic, or «stand - alone,» autism, they found abnormalities involving three of the network genes.

Not exact matches

Manou Sommen and colleagues report a study of a targeted resequencing panel for hearing loss was developed including 79 genes for nonsyndromic hearing loss (NSH) L and selected forms of syndromic hearing loss.They established a straightforward variant classification system to deal with the large number of variants encountered and showed that after GJB2, the most commonly mutated genes in a Western - European population are TMC1, MYO15A, and MYO7A.

There are at least six genes that look to be under positive selection in cats that are associated with hearing capacity; we know this because mutations in these genes cause nonsyndromic recessive hearing loss or deafness.