Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
about
Sheldon-Hall syndromeMutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromesArthrogryposis: a review and updateMYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to LearnExome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.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.AMC: amyoplasia and distal arthrogryposis.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.The clubfoot painted by Jusepe de Ribera: a controversial diagnosis.Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.Severe skew foot deformity in a patient with freeman-sheldon syndromeProtein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.
P2860
Q21202894-B8CDA99B-E3D5-4D97-B06A-F1B1DEDD6094Q24531960-59197BA0-F40B-4BD3-BD8E-B4B9AD312957Q24644127-84C86BC8-5FE4-4DBB-919B-2A5635A3E77FQ28070076-4E6C4BBF-A879-4F37-8574-298235D94700Q34299915-D778C9FE-1401-4803-9CE7-46807063B57AQ35095559-9515FA14-0859-41A2-87CF-ADE6C2B39C04Q36322704-5D68DFF5-23CF-4D2E-9D7C-A7807D6F8EA2Q36582346-7359F202-6E9C-41A3-A9FA-B0E35E8D4261Q36841149-B2FF5A83-F6C5-4DE5-9E96-9D79645D9639Q38412251-335DDFD5-CE2A-4DD2-A5C5-3932D8828FCCQ39141692-E1AB94EC-607C-4697-9214-92378EFBC6EDQ40462137-2206E75F-88A6-4520-A575-EDDF3015C28CQ41118027-78C9BADE-BC35-4F88-AB52-B8D70A30956FQ45100979-B39F1655-F29E-4DB5-8CF8-88B2151E5C6AQ55059311-791D3FD8-B6ED-44DA-9DE7-16A24322A623
P2860
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@ast
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@en
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@nl
type
label
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@ast
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@en
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@nl
prefLabel
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@ast
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@en
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@nl
P2093
P2860
P3181
P1476
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@en
P2093
J F Bohnsack
P A Krakowiak
P2860
P3181
P356
10.1002/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K
P407
P577
1998-02-26T00:00:00Z