▪ Abstract This review provides a synthesis that combines data from classical
experimentation and recent advances in our understanding of early eye development …

Pax genes encode a family of transcription factors that orchestrate complex processes of
lineage determination in the developing embryo. Their key role is to specify and maintain …

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …

Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect.
In> 80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci …

Renal hypodysplasia (RHD) is characterized by a reduced nephron number, small kidney
size, and disorganized renal tissue. A hereditary basis has been established for a subset of …

PAX proteins function as transcription factors and play an essential role in organogenesis
during embryonic development in regulating cell proliferation and self-renewal, resistance to …

Abstract Recent years have seen a renaissance of investigation into the mechanisms of
inner ear development. Genetic analysis of zebrafish has contributed significantly to this …

The mature eye is a complex organ that develops through a highly organized process during
embryogenesis. Alterations in its genetic programming can lead to severe disorders that …

FSGS is characterized by the presence of partial sclerosis of some but not all glomeruli.
Studies of familial FSGS have been instrumental in identifying podocytes as critical elements …

Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal‐
dominant disorder characterized by ocular and renal malformations. Mutations in the paired …