Genomic cause for Carey-Fineman-Ziter syndrome identified
An international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized by facial weakness, a small or retracted chin, a cleft palate and curvature of the spine (scoliosis), among other symptoms. The researchers determined that CFZS is caused by mutations in the gene MYMK […]
