%0 Journal Article
%T Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
%A Andr¨¦ Reis
%A Edoardo Maselli
%A Emanuela Manfredini
%A Francesca Pasutto
%A Heinrich Sticht
%A Lucia Mauri
%A Mariacristina Patrosso
%A Nicole Weisschuh
%A Robert N. Weinreb
%A Silvana Penco
%A Steffen Uebe
%A Urs Vossmerbaeumer
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0495-y
%X Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6. However, mutations in these genes explain only a small fraction of cases suggesting the presence of further candidate genes
%K COL1A1
%K Congenital glaucoma
%K Early onset glaucoma
%K Osteogenesis imperfecta
%K Whole exome sequencing
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970237/