Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

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Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder Duane retraction syndrome: causes, effects and management strategies.

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Q34902957-31C6870C-AD89-405C-843B-82F0C966BA8E Q47304770-4C684C86-592B-48B2-9FE1-9B789D54E904

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Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

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http://www.wikidata.org/entity/Q36846599

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2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年論文

@yue

2013年論文

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2013年論文

@zh-hk

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2013年论文

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2013年论文

@zh-cn

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Diversified clinical presentat ...... ith Duane retraction syndrome.

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Diversified clinical presentat ...... ith Duane retraction syndrome.

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Diversified clinical presentat ...... ith Duane retraction syndrome.

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Diversified clinical presentat ...... ith Duane retraction syndrome.

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Alvin L Young

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Chi Pui Pang

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Henry H W Lau

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LiJia Chen

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Mary Ho

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Ming-ming Yang

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Pancy O S Tam

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Wilson W K Yip

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The DNA sequence and comparative analysis of human chromosome 20

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

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

Okihiro syndrome is caused by SALL4 mutations

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders

Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide

No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS)

The nonsense-mediated decay RNA surveillance pathway

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986-994

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scholarly article

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2013-05-06T00:00:00Z

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23687435

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Duane retraction syndrome

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3654842

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Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

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P2860

P2860

Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

description

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P478

P577

P698

P921

P932

P1433

P1476

P2093

P2860

P304

P31

P478

P577

P698

P921

P932