Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma.

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Investigative Ophthalmology and Visual Science

• Publication date

  2006-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1167/IOVS.05-0979PMID 16638984
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A compound heterozygous change found in Peters' anomaly.

  2005cited by this paper
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• A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

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• Molecular basis of Peters anomaly in Saudi Arabia

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• Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.

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• Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

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• A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

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• Identification and analysis of a novel mutation in the FOXC1 forkhead domain.

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  2000influential reference
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  2000influential reference
• Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

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  1998influential reference
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• Evidence that Rieger syndrome maps to 4q25 or 4q27.

  1992cited by this paper
• Rieger's anomaly and glaucoma associated with partial trisomy 16q. Case report.

  1987cited by this paper
• Axenfeld-Rieger syndrome. A spectrum of developmental disorders.

  1985cited by this paper
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  1983influential reference
• Oculocutaneous albinism associated with corneal mesodermal dysgenesis.

  1981cited by this paper
• The Rieger syndrome: An autosomal dominant disorder with ocular, dental and systemic abnormalities

  1979cited by this paper
• The Rieger syndrome.

  1979cited by this paper
• Dysgenesis Mesodermalis of the Iris and the Cornea

  1970cited by this paper

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