(Q54532643)

31 May 2018

title

Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. (English)

1 reference

31 May 2018

1 reference

1 reference

2

1 reference

31 May 2018

author name string

Arif O Khan

series ordinal

1

1 reference

31 May 2018

Abdullah Al-Amri

series ordinal

3

1 reference

31 May 2018

publication date

1 June 2008

1 reference

31 May 2018

published in

Ophthalmic Genetics

1 reference

31 May 2018

volume

29

1 reference

31 May 2018

issue

2

1 reference

31 May 2018

page(s)

67-71

1 reference

31 May 2018

https://api.crossref.org/works/10.1080%2F13816810801908152

1 reference

21 January 2018

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

PAX6 mutations: genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

Severe ocular surface disease and glaucoma in a newborn with aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

Axenfeld-Rieger syndrome in the age of molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810801908152

10.1080/13816810801908152

21 January 2018

Identifiers

DOI

1 reference

31 May 2018

release_bqvizdztrnf6fcceqyqg7rqnc4

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bqvizdztrnf6fcceqyqg7rqnc4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

18484311

1 reference

31 May 2018