A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders-Reference-Cited by-同舟云学术

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A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders

Published:2020-03-04 Issue:6 Volume:97 Page:908-914
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Vogt Julie¹^ORCID,Al‐Saedi Atif²,Willis Tracey³,Male Alison⁴,McKie Arthur⁵,Kiely Nigel³,Maher Eamonn R.²⁵

Affiliation:

1. West Midlands Regional Genetics ServiceBirmingham Women's and Children's Hospital Birmingham UK

2. Centre for Rare Diseases and Personalised MedicineUniversity of Birmingham Birmingham UK

3. Neuromuscular Service, Robert Jones and Agnes Hunt Orthopaedic Hospital Oswestry UK

4. North East Thames Regional Genetics ServiceGreat Ormond Street Hospital for Children NHS Foundation Trust London UK

5. Department of Medical GeneticsUniversity of Cambridge and NIHR Cambridge Biomedical Research Centre Cambridge UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13728

Reference34 articles.

1. Lethal multiple pterygium syndrome;Regemorter N;Am J Med Genet,1984

2. Lethal multiple pterygium syndrome in an 18-week fetus with hydrops

3. Multiple pterygium syndrome: evolution of the phenotype.

4. Phenotypic variation of multiple pterygium syndrome in siblings, including identical twins;Ramer JC;Dysmorphol Clin Genet,1991

5. Limb pterygium syndromes: A review and report of eleven patients

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

2. Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis;Frontiers in Pediatrics;2023-09-07

3. Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome;Genes;2022-09-27

4. A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis;JCI Insight;2022-06-22

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