Spectrum of mutations that cause distal arthrogryposis types 1 and 2B-Reference-Cited by-同舟云学术

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Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

Published:2013-02-07 Issue:3 Volume:161 Page:550-555
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Beck Anita E.,McMillin Margaret J.,Gildersleeve Heidi I.S.,Kezele Phillip R.,Shively Kathryn M.,Carey John C.,Regnier Michael,Bamshad Michael J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1;Alvarado;J Bone Joint Surg Am,2011

2. Distal arthrogryposis type 1: Clinical analysis of a large kindred;Bamshad;Am J Med Genet,1996a

3. A revised and extended classification of the distal arthrogryposes;Bamshad;Am J Med Genet,1996b

4. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression;Jiang;Hum Genet,2006

5. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis;Kimber;Neurology,2006

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1. Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report;Children;2024-07-16

2. Mechanochemical consequences of myopathy‐linked mutations in Tpm2.2 on striated muscle contractility;The FASEB Journal;2023-12-29

3. Musculoskeletal defects associated with myosin heavy chain‐embryonic loss of function are mediated by the YAP signaling pathway;EMBO Molecular Medicine;2023-07-26

4. Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant;Frontiers in Genetics;2023-03-09

5. Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism;Journal of Human Genetics;2023-01-12

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