Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

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Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

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http://www.wikidata.org/entity/Q48356993

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

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2016年學術文章

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Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

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Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

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Item

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Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

@en

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

@nl

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Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

@en

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

@nl

P1476

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

@en

P2093

Anju Shukla

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Mary Mathew

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Shalini S Nayak

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Smrithi Salian

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P2860

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

The role of Fras1/Frem proteins in the structure and function of basement membrane.

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Intrafamilial variability in Fraser syndrome.

Molecular study of 33 families with Fraser syndrome new data and mutation review.

P304

83-85

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P31

scholarly article

P356

10.1111/CGA.12188

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P433

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P478

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P50

Katta Mohan Girisha

P577

2016-09-14T00:00:00Z

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P698

27624506

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