Childhood glaucoma is an important cause of blindness world-wide. Eleven genes are
currently known to cause inherited forms of glaucoma with onset before age 20. While all the …

Abstract Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant
disorders that are each characterized by anterior segment abnormalities of the eye …

Copy number variations (CNVs) are important genomic structural variations and can give
rise to significant phenotypic diversity. Herein, we used high-density 600K SNP arrays to …

Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate
(NSCL/P) show distinctive facial features. The presence of this facial endophenotype is …

Abstract Aniridia and Axenfeld-Rieger Syndrome are related, human ocular disorders that
are typically inherited in an autosomal dominant manner. Both result from incorrect …

As a key member of the forkhead box transcription factors, forkhead box F2 (FOXF2) serves
as a transcriptional regulator and regulates downstream gene expression in embryonic …

Abstract Objectives Neuritin 1 gene (NRN1) is involved in neurodevelopment processes and
synaptic plasticity and its expression is regulated by brain-derived neurotrophic factor …

Given the crucial role of the personalized management and treatment of hearing loss (HL),
etiological investigations are performed early on, and genetic analysis significantly …

Background Chromosome 6p25 deletion syndrome is a rare neurocristopathy with variable
clinical features. The objective of the current study was to describe a novel phenotype for …

Background Terminal 6p deletions are rare, and information on their clinical consequences
is scarce, which impedes optimal management and follow-up by clinicians. The parent …