Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

about

Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families

P2860

Q37482695-F16C5361-2A62-4DA2-9598-B020745F9927

P2860

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Item

http://www.wikidata.org/entity/Q53312595

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

Novel DDR2 mutation identified ...... b-abnormal calcification type.

@en

Novel DDR2 mutation identified ...... b-abnormal calcification type.

@nl

type

Item

label

Novel DDR2 mutation identified ...... b-abnormal calcification type.

@en

Novel DDR2 mutation identified ...... b-abnormal calcification type.

@nl

prefLabel

Novel DDR2 mutation identified ...... b-abnormal calcification type.

@en

Novel DDR2 mutation identified ...... b-abnormal calcification type.

@nl

P1476

Novel DDR2 mutation identified ...... b-abnormal calcification type.

@en

P2093

Abdelaziz Sefiani

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

Aritoshi Iida

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

Gen Nishimura

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

Hülya Kayserili

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

Jaber Lyahyai

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

Maria Mansouri

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

Naomichi Matsumoto

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

Noriko Miyake

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

Shiro Ikegawa

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

Siham Chafai Elalaoui

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

P2860

Protein structure prediction on the Web: a case study using the Phyre server

The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism.

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Spondylo-epi-metaphyseal dysplasia.

Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

P304

460-465

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

P31

scholarly article

P356

10.1002/AJMG.A.37426

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

P407

English

P433

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

P478

170A

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

P577

2015-10-13T00:00:00Z

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

P698

26463668

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

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

about

P2860

P2860

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698