Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
about
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.Discoidin domain receptor functions in physiological and pathological conditions.Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patientsMutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.A case of short stature with anterior vertebral beakingSpondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
P2860
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P2860
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
description
1993 nî lūn-bûn
@nan
1993 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@ast
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@en
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@nl
type
label
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@ast
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@en
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@nl
prefLabel
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@ast
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@en
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@nl
P2093
P356
P1476
Spondylo-meta-epiphyseal dyspl ...... e features and histopathology.
@en
P2093
Borochowitz Z
Katznelson MB
Langer LO Jr
P304
P356
10.1002/AJMG.1320450308
P577
1993-02-01T00:00:00Z