Clinical characteristics and natural history of Freeman-Sheldon syndrome
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Sheldon-Hall syndromeMutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeArthrogryposis: a review and updateFreeman-sheldon syndrome presenting with microstomia: a case report and literature reviewMYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to LearnTroponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) miceMusical-grade tuning forks for emergent audiometric screeningAutosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Surgical treatment of scoliosis in a rare disease: 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.The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleBilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus.Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 yearsAMC: amyoplasia and distal arthrogryposis.First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome.Freeman-Sheldon syndrome: case report and review of the literature.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.Distal arthrogryposis syndrome.Freeman-sheldon syndromeFreeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan AfricaSkeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.Dr Ben Franklin and an unusual modern-day cure for recurrent pleuritis.Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.Anesthetic considerations in Sheldon-Hall syndrome.A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery.Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
P2860
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P2860
Clinical characteristics and natural history of Freeman-Sheldon syndrome
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2006 nî lūn-bûn
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2006 թուականի Մարտին հրատարակուած գիտական յօդուած
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2006 թվականի մարտին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@ast
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@en
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@nl
type
label
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@ast
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@en
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@nl
prefLabel
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@ast
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@en
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@nl
P2093
P3181
P356
P1433
P1476
Clinical characteristics and natural history of Freeman-Sheldon syndrome
@en
P2093
Ann Rutherford
David A Stevenson
Janice Palumbos
John C Carey
Joyce Dolcourt
Michael J Bamshad
P304
P3181
P356
10.1542/PEDS.2005-1219
P407
P577
2006-03-01T00:00:00Z