Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature. (Q33837382)

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2 February 2020

review article

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6 July 2020

Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature (English)

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branchiootorenal syndrome

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main subject

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sensory nervous system

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M S Al-Dosari

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M Almazyad

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L Al-Ebdi

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J Y Mohamed

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Saad Al-Dahmash

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Hassan Al-Dhibi

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Eman Al-Kahtani

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Shahira Al-Turkmani

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Hisham Alkuraya

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B D Hall

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F S Alkuraya

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publication date

8 May 2010

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6 July 2020

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6 July 2020

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page(s)

813-818

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Creative Commons Attribution 3.0 Unported

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copyright license

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on focus list of Wikimedia project

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copyright status

copyrighted

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ScienceSource

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cites work

AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome).

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

TFAP2A mutations result in branchio-oculo-facial syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Cell autonomous roles for AP-2alpha in lens vesicle separation and maintenance of the lens epithelial cell phenotype

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Branchio-oculo-facial syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

AP-2alpha transcription factor is required for early morphogenesis of the lens vesicle

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Further delineation of the branchio-oculo-facial syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

New autosomal dominant branchio-oculo-facial syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Genetic analysis indicates that transcription factors AP-2alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

New ophthalmic manifestations of branchio-oculo-facial syndrome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2866573

Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome

29 October 2018

1 reference

12 December 2020

Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome

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12 December 2020

Ocular anomalies in the branchio-oculo-facial syndrome

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12 December 2020

Branchio-oculo-facial syndrome associated with a white forelock

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12 December 2020

Branchio-oculo-facial syndrome with valvular pulmonic stenosis

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Branchio-oculo-facial syndrome with bilateral linear scars of the neck

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12 December 2020

Branchio-oculo-facial syndrome with the atresia of external ear

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Branchio-oculo-facial syndrome with ectodermal parathyroid tissue

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12 December 2020

Bilateral dermal thymus of neck in branchio-oculo-facial syndrome

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12 December 2020

A complexTFAP2Aallele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

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12 December 2020

Branchio-oculo-facial syndrome (BOFS) and congenital heart defects

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12 December 2020

Branchio-oculo-facial syndrome

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12 December 2020

Identifiers

1 reference

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2 February 2020

PubMed publication ID

20461149

1 reference