Conclusions: These patients demonstrate that heterozygous, likely dominant negative mutations affecting the protein kinase domain of the CDK13 gene result in a recognisable,
syndromic form of intellectual disability, with or without congenital heart disease.
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.
Forms of
syndromic retinal dysplasia have been reported in the Labrador retriever [85 — 87] and the Samoyed [88].