A revised and extended classification of the distal arthrogryposes
about
Sheldon-Hall syndromeMutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and 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 2BExome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1Diagnosing arthrogryposis multiplex congenita: a reviewArthrogryposis: a review and updateA variant of Freeman-Sheldon syndrome maps to 11p15.5-pterFreeman-sheldon syndrome presenting with microstomia: a case report and literature reviewMYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to LearnClinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Mutations in ECEL1 cause distal arthrogryposis type 5DMyosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.Skeletal muscle abnormalities and genetic factors related to vertical talus.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.The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthAMC: amyoplasia and distal arthrogryposis.Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Thick and thin filament gene mutations in striated muscle diseases.Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Freeman-Sheldon syndrome: case report and review of the literature.Myosinopathies: pathology and mechanisms.The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.Trismus pseudocamptodactyly syndrome: a sporadic cause of trismusGordon syndrome: literature review and a report of two cases.Cervical stenosis in a patient with arthrogryposis: case reportp.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.Distal arthrogryposis type 1: clinical analysis of a large kindred.Distal arthrogryposis syndrome.Anaesthesia challenges in Freeman-Sheldon syndrome.
P2860
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P2860
A revised and extended classification of the distal arthrogryposes
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A revised and extended classification of the distal arthrogryposes
@ast
A revised and extended classification of the distal arthrogryposes
@en
A revised and extended classification of the distal arthrogryposes
@nl
type
label
A revised and extended classification of the distal arthrogryposes
@ast
A revised and extended classification of the distal arthrogryposes
@en
A revised and extended classification of the distal arthrogryposes
@nl
prefLabel
A revised and extended classification of the distal arthrogryposes
@ast
A revised and extended classification of the distal arthrogryposes
@en
A revised and extended classification of the distal arthrogryposes
@nl
P2093
P2860
P3181
P1476
A revised and extended classification of the distal arthrogryposes
@en
P2093
P2860
P304
P3181
P356
10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M
P407
P577
1996-11-11T00:00:00Z