Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic CPAMD8 variants
Owen M. Siggs, Emmanuelle Souzeau, Deepa Ajay Taranath, Andrew Dubowsky, Angela Chappell, Tiger Zhou, Shari Javadiyan, Jillian K. Nicholl, Lisa S. Kearns, Sandra Elfride Staffieri, Andrew Narita, James E. Smith, John Pater, Alex William Hewitt, Jonathan B. Ruddle, , Jamie E. Craig
The paper identifies biallelic CPAMD8 variants as a cause of congenital glaucoma with anterior segment dysgenesis in four individuals from three families.
Ophthalmology · Jan 7, 2020Peer-reviewedGenetics