Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
about
The ADAMTS(L) family and human genetic disordersMutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.From tall to short: the role of TGFβ signaling in growth and its disorders.Chondrodysplasias and TGFβ signaling.Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
P2860
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P2860
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
@ast
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
@en
type
label
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
@ast
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
@en
prefLabel
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
@ast
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
@en
P2093
P2860
P356
P1476
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
@en
P2093
Chatelain P
Cordier MP
Cormier-Daire V
Finidori G
Le Merrer M
Maroteaux P
P2860
P304
P356
10.1136/JMG.38.11.745
P407
P577
2001-11-01T00:00:00Z