jmg.bmj19d
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
Penetrance was set at 0.95 in heterozygotes and homozygous variants. Disease gene frequency was set to 0.0001. Congenital or paediatric cataract is a highly heterogeneous disorder with 13 known genes ...
Johns Hopkins Medicine26d
Zollinger-Ellison Syndrome
What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...
Medscape27d
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
PURPOSE: To further unravel the molecular genetic background for the association congenital cataract-microcornea (CCMC). METHODS: DNA variation was pointed out by direct DNA sequencing of 13 lens ...