HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

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HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

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http://www.wikidata.org/entity/Q46774319

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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HDR syndrome with a novel muta ...... stapes gusher: a case report.

@en

HDR syndrome with a novel muta ...... stapes gusher: a case report.

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Item

label

HDR syndrome with a novel muta ...... stapes gusher: a case report.

@en

HDR syndrome with a novel muta ...... stapes gusher: a case report.

@nl

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HDR syndrome with a novel muta ...... stapes gusher: a case report.

@en

HDR syndrome with a novel muta ...... stapes gusher: a case report.

@nl

P1476

HDR syndrome with a novel muta ...... d stapes gusher: a case report

@en

P2093

Aram Yang

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Chang-Seok Ki

http://www.w3.org/2001/XMLSchema#string

Dong-Kyu Jin

http://www.w3.org/2001/XMLSchema#string

Jinsup Kim

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Sung Hwa Hong

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P2860

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome

GATA3 haplo-insufficiency causes human HDR syndrome

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome

GATA3 controls the specification of prosensory domain and neuronal survival in the mouse cochlea

Gain- and Loss-of-Function Mutations in the Breast Cancer Gene GATA3 Result in Differential Drug Sensitivity

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.

Auditory and vestibular phenotypes associated with GATA3 mutation.

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s12881-017-0484-6

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scholarly article

case report

P356

10.1186/S12881-017-0484-6

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P478

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Sung Yoon Cho

P577

2017-10-26T00:00:00Z

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1092352930

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29073906

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