A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
about
Sheldon-Hall syndromeMutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromesMutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2BMutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesA gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.Consanguineous Marital Union Resulting in a Progeny of Whistling-face Syndrome and Hemophilia: A Case Report.Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.
P2860
Q21202894-DB3E2CEC-6150-4340-9EEF-EA7DE04F7BA7Q24531960-8F6820B2-0DA1-4768-8661-03A6EFEF3A83Q24532489-B4FED294-CB69-4F33-9CE8-B5887CBED582Q28237280-961A2189-B965-4146-AA4D-6935CEB465E1Q34394553-1758C8D6-A56C-4E3B-A30C-5FF0D67B82BFQ35095559-B5007AD1-C014-4E61-AD76-14B8762C7D3BQ39957686-43F950B5-DE97-4432-87C9-E2DAC086E488Q42933921-098B792F-B0F6-4C1C-A7AA-48AFE0D71826
P2860
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
description
1997 nî lūn-bûn
@nan
1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@ast
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@en
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@nl
type
label
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@ast
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@en
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@nl
prefLabel
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@ast
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@en
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@nl
P2093
P2860
P1476
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
@en
P2093
J F Bohnsack
J R O'Quinn
P A Krakowiak
W S Watkins
P2860
P304
P407
P577
1997-02-01T00:00:00Z