Ontology highlight
ABSTRACT:
SUBMITTER: Khan K
PROVIDER: S-EPMC3169830 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Khan Kamron K Rudkin Adam A Parry David A DA Burdon Kathryn P KP McKibbin Martin M Logan Clare V CV Abdelhamed Zakia I A ZI Muecke James S JS Fernandez-Fuentes Narcis N Laurie Kate J KJ Shires Mike M Fogarty Rhys R Carr Ian M IM Poulter James A JA Morgan Joanne E JE Mohamed Moin D MD Jafri Hussain H Raashid Yasmin Y Meng Ngy N Piseth Horm H Toomes Carmel C Casson Robert J RJ Taylor Graham R GR Hammerton Michael M Sheridan Eamonn E Johnson Colin A CA Inglehearn Chris F CF Craig Jamie E JE Ali Manir M
American journal of human genetics 20110901 3
Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification. These results highlight the diverse ...[more]