A homozygous TTN gene variant associated with lethal congenital contracture syndrome-Reference-Cited by-同舟云学术

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A homozygous TTN gene variant associated with lethal congenital contracture syndrome

Published:2018-03-25 Issue:4 Volume:176 Page:1001-1005
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Chervinsky Elena¹,Khayat Morad¹^ORCID,Soltsman Sofia²³,Habiballa Hatem⁴,Elpeleg Orly⁵^ORCID,Shalev Stavit¹⁶

Affiliation:

1. Genetics Institute, Emek Medical CenterAfula Israel

2. Maternal Fetal Medicine Outpatient Clinic, Department of Obstetrics and GynecologyBaruch Padeh Medical CenterPoriya Israel

3. Faculty of Medicine in the GalileeBar‐Ilan UniversitySafed Israel

4. Sherutei Briut Sick Fund, Clalit, Ein Mahel, Israel

5. The Monique and Jacques Roboh Department of Genetic ResearchHadassah‐Hebrew University Medical CenterJerusalem Israel

6. Rappaport Faculty of MedicineTechnion – Israel Institute of TechnologyHaifa Israel

Funder

Abraham & Sonia Rochlin Family Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38639

Reference11 articles.

1. Neonatal fractures as a presenting feature of LMOD3 ‐associated congenital myopathy

2. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

3. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

4. ECEL1mutation causes fetal arthrogryposis multiplex congenita

5. Atypical phenotypes in titinopathies explained by second titin mutations

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inferring disease course from differential exon usage in the wide titinopathy spectrum;Annals of Clinical and Translational Neurology;2024-08-28

2. Identification of four TTN variants in three families with fetal akinesia deformation sequence;BMC Medical Genomics;2024-06-27

3. Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus;Case Reports in Genetics;2023-07-18

4. Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy;Circulation: Genomic and Precision Medicine;2023-04

5. The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum;Journal of Medical Genetics;2023-03-28

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