CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

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Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder.Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

P2860

Q37577305-C6B087DA-DDA7-4D14-B3C1-523A82B0F363 Q48690770-FD940BEB-9ED3-49C6-99D3-1A64987BCA18

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CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

Item

http://www.wikidata.org/entity/Q48892428

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

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CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

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Item

label

CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

@en

CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

@nl

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CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

@en

CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

@nl

P1476

CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

@en

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Altaf A Kondkar

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

Arif O Khan

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

Darren T Oystreck

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Khaled K Abu-Amero

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Thomas M Bosley

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P2860

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

The clinical spectrum of homozygous HOXA1 mutations

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

Okihiro syndrome is caused by SALL4 mutations

Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development

Essential roles of an intercalated disc protein, mXinbeta, in postnatal heart growth and survival

Xin repeats define a novel actin-binding motif.

Clinical characterization of the HOXA1 syndrome BSAS variant

Duane's syndrome.

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435-442

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scholarly article

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10.3109/08820538.2013.874474

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English

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5-6

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

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2014-01-29T00:00:00Z

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259983960

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P698

24475916

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CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

about

P2860

P2860

CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698