Intrafamilial Phenotypic Variability in <scp>SYNE1</scp>‐Related Disorder-Reference-Cited by-同舟云学术

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Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder

Published:2024-08-30 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Pekeles Heather¹^ORCID,Myers Kenneth A.¹²³^ORCID

Affiliation:

1. Division of Neurology, Department of Pediatrics, Montreal Children's Hospital McGill University Health Centre Montreal Canada

2. Child Health and Human Development Program Research Institute of the McGill University Medical Centre Montreal Canada

3. Department of Neurology and Neurosurgery, Montreal Children's Hospital McGill University Health Centre Montreal Canada

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63858

Reference11 articles.

1. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

2. Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

3. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

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