Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference13 articles.
1. A revised and extended classification of the distal arthrogryposes
2. Distal arthrogryposis type 1: Clinical analysis of a large kindred
3. Cranio-carpo-tarsal dystrophy
4. Craniocarpotarsal Dysplasia
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1. A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family;Molecular Genetics & Genomic Medicine;2022-09-07
2. Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome;Biophysical Journal;2021-03
3. Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism;Skeletal Muscle;2020-08-15
4. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis;The American Journal of Human Genetics;2020-08
5. Distal Arthrogryposis and Lethal Congenital Contracture Syndrome – An Overview;Frontiers in Physiology;2020-06-25
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