Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

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Conditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal.Identification of quantitative trait transcripts for growth traits in the large scales of liver and muscle samples.

P2860

Q35029582-AE8F46E1-53C3-451B-BD63-320D30A28D02 Q38464033-213457B4-5E23-4F7E-9865-4AD84B7DF736

P2860

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

Item

http://www.wikidata.org/entity/Q55689447

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

@zh-cn

2008年学术文章

@zh-hans

2008年学术文章

@zh-my

2008年学术文章

@zh-sg

2008年學術文章

@yue

2008年學術文章

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2008年學術文章

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name

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

@en

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

@nl

type

Item

label

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

@en

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

@nl

prefLabel

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

@en

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

@nl

P1476

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations

@en

P2093

Brendan Lee

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Dario Maria Mattiacci

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Deborah Krakow

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Mariacarolina Salerno

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

Valentina Esposito

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P2860

Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Spondylocarpotarsal synostosis syndrome and cervical instability.

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.

Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)

Spondylocarpotarsal synostosis with epiphyseal dysplasia

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1230-1233

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scholarly article

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10.1002/AJMG.A.32303

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English

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146A

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Nicola Brunetti-Pierri

D De Brasi

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2008-05-01T00:00:00Z

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5465352

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Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

about

P2860

P2860

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P932