Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

about

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

Item

http://www.wikidata.org/entity/Q48315381

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

@en

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

@nl

type

Item

label

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

@en

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

@nl

prefLabel

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

@en

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

@nl

P1476

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

@en

P2093

A Gelot

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

B Keren

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

D Héron

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

I Marey

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

J M Jouannic

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

J P Siffroi

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

R Grigorescu

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

S Chantot-Bastaraud

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

S Whalen

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

P2860

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis

P304

556-558

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

P31

scholarly article

P356

10.1111/CGE.13062

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

P433

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

P478

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

P50

Solveig Heide

Alinoë Lavillaureix

P577

2017-08-01T00:00:00Z

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

P698

28762477

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

P921

Congenital contractural arachnodactyly