Axenfeld–Rieger ocular dysgenesis is associated with mutations of the human PITX2 and
FOXC1 genes, which encode transcription factors of the homeodomain and forkhead types, …

Mutations in the human FOXC1 transcription factor gene underlie Axenfeld–Rieger (AR)
syndrome, a disorder characterized by anterior segment malformations in the eye and glaucoma…

Mutations in the FOXC1 gene result in Axenfeld-Rieger malformations of the anterior segment
of the eye and lead to an increased susceptibility of glaucoma. To understand how the …

Five missense mutations of the winged-helix FOXC1 transcription factor, found in patients
with Axenfeld-Rieger (AR) malformations, were investigated for their effects on FOXC1 …

The ATBF1 gene encodes two protein isoforms, the 404-kDa ATBF1-A, possessing four
homeodomains and 23 zinc fingers, and the 306-kDa ATBF1-B, lacking a 920-amino acid N-…

Retinal dystrophies are predominantly caused by mutations affecting the visual phototransduction
system and cilia, with few genes identified that function to maintain photoreceptor …

Five missense mutations (P79L, P79T, I91S, I91T and R127H) within the forkhead DNA-binding
domain of the FOXC1 transcription factor, identified in patients with Axenfeld–Rieger (AR…

FOXC1 mutations underlie Axenfeld-Rieger syndrome, an autosomal dominant disorder
that is characterized by a spectrum of ocular and nonocular phenotypes and results in an …

purpose. FOXC1 mutations result in Axenfeld-Rieger syndrome, a disorder characterized by
a broad spectrum of malformations of the anterior segment of the eye and an elevated risk …

Prader-Willi syndrome is characterized by severe hypotonia in infancy, with decreased lean
mass and increased fat mass in childhood followed by severe hyperphagia and consequent …