A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene (Q24296675)

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1 November 2019

title

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

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1 November 2019

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GOA release 2020-03-11

odontogenesis of dentin-containing tooth

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GOA release 2020-03-11

Axenfeld-Rieger syndrome

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6

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1 November 2019

Edwin M. Stone

7

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1 November 2019

Val C. Sheffield

8

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1 November 2019

Wallace Alward

9

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1 November 2019

1

Robert A Honkanen

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1 November 2019

author name string

Darryl Y Nishimura

2

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1 November 2019

Ruth E Swiderski

3

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1 November 2019

Steven R Bennett

4

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1 November 2019

Sungpyo Hong

5

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1 November 2019

language of work or name

English

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publication date

1 March 2003

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American Journal of Ophthalmology

1 November 2019

published in

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1 November 2019

volume

135

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1 November 2019

issue

3

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1 November 2019

page(s)

368-375

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The epidemiology of open-angle glaucoma: a review

1 November 2019

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Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

7 January 2021

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

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Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

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Identification of a gene that causes primary open angle glaucoma.

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Adult-onset primary open-angle glaucoma caused by mutations in optineurin

7 January 2021

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Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25

7 January 2021

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Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel

7 January 2021

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Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

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The hepatocyte nuclear factor-3/forkhead transcription regulatory family in development, inflammation, and neoplasia

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Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending

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Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

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Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor

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Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

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Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

7 January 2021

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Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)

7 January 2021

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Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

7 January 2021

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Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

7 January 2021

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Linkage of posterior polymorphous corneal dystrophy to 20q11

7 January 2021

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A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

7 January 2021

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Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

7 January 2021

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Axenfeld-Rieger syndrome. A spectrum of developmental disorders

7 January 2021

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Axenfeld-Rieger syndrome in the age of molecular genetics

7 January 2021

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Expression pattern of the winged helix factor XFD-11 during Xenopus embryogenesis

7 January 2021

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Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome

7 January 2021

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Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports

7 January 2021

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Cardiac valvular disease and Axenfeld-Rieger syndrome

7 January 2021

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7 January 2021

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7 January 2021

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Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

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10.1016/S0002-9394(02)02061-5

7 January 2021

Identifiers

DOI

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1 November 2019

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