Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

Item
http://www.wikidata.org/entity/Q28265153
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

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

Item
http://www.wikidata.org/entity/Q28265153
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
P1433
P1476
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P577
P698
P3181
P356
P1433
P1476
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
@en
P2093
P2860
P304
P31
P3181
P356
10.1002/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K
P407
P433
P478
P577
P698