Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

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The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

P2860

Q52670923-F295C5F2-13CA-40A0-B54C-B93A925ED4A2

P2860

Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

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http://www.wikidata.org/entity/Q41904987

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Case report of a novel mutatio ...... h branchio-oto-renal syndrome.

@en

type

Item

label

Case report of a novel mutatio ...... h branchio-oto-renal syndrome.

@en

prefLabel

Case report of a novel mutatio ...... h branchio-oto-renal syndrome.

@en

P1476

Case report of a novel mutatio ...... h branchio-oto-renal syndrome.

@en

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A Batalli Këpuska

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B Merovci

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H Jashari

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L Spahiu

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V Ismaili Jaha

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P2860

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

A family with the branchio-oto-renal syndrome: clinical and genetic correlations

Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study.

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

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91-94

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scholarly article

case report

P356

10.1515/BJMG-2016-0042

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P433

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P478

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2016-12-01T00:00:00Z

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28289595

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P932

5343337

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Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

about

P2860

P2860

Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932