Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

P2860

Q46113995-D72A5377-2BFE-4F31-AEF5-2FF6A7C8E90C

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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

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http://www.wikidata.org/entity/Q52954358

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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name

Corner fracture type spondylom ...... with type II collagenopathies.

@en

Corner fracture type spondylom ...... with type II collagenopathies.

@nl

type

Item

label

Corner fracture type spondylom ...... with type II collagenopathies.

@en

Corner fracture type spondylom ...... with type II collagenopathies.

@nl

prefLabel

Corner fracture type spondylom ...... with type II collagenopathies.

@en

Corner fracture type spondylom ...... with type II collagenopathies.

@nl

P1476

Corner fracture type spondylom ...... with type II collagenopathies.

@en

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Alan Schlesinger

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

Alyssa Tran

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Ana Belinda Campos-Xavier

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Andrea Superti-Furga

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Brendan H Lee

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James T Lu

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Keren Machol

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Lindsay C Burrage

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Luisa Bonafe

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Mahim Jain

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P2860

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

Analysis of protein-coding genetic variation in 60,706 humans

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.

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733-739

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scholarly article

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10.1002/AJMG.A.38059

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English

P433

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

P478

173

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

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Philippe M. Campeau

P577

2016-11-26T00:00:00Z

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27888646

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P932

5315610

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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

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P2860

P2860

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

description

name

type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932