You-Hoover-Fong syndrome: Novel TELO2 mutations identified and clinical spectrum expanded

Mutations in the TELO2 gene were recently described as causing a syndrome characterized by developmental delay, microcephaly and dysmorphic features, which was then termed You-Hoover-Fong [...]

Gene of the Month – July: KCNQ5

The KCNQ gene family encodes potassium channel proteins, which are essential for the transport of potassium ions across the cell membrane. It comprises five genes, and mutations in four of these [...]