LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia and secondary glaucoma

(2010) Julie Désir et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A homozygous mutation in LTBP2 causes isolated microspherophakia

(2010) Arun Kumar et al.   HUMAN GENETICS

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

(2009) Manir Ali et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies

(2009) P Sivadorai et al.   CLINICAL GENETICS

Functional analysis ofCYP1B1mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma

(2009) M-P López-Garrido et al.   CLINICAL GENETICS

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma

(2009) Mehrnaz Narooie-Nejad et al.   HUMAN MOLECULAR GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Variable Expressivity and High Penetrance of CYP1B1 Mutations Associated with Primary Congenital Glaucoma

(2009) Fatemeh Suri et al.   OPHTHALMOLOGY

Pathophysiology of zonular diseases

(2007) Pascal Dureau   CURRENT OPINION IN OPHTHALMOLOGY