Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum-Reference-Cited by-同舟云学术

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

Published:2019-01-16 Issue:3 Volume:179 Page:386-396
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alkhunaizi Ebba¹²^ORCID,Shuster Shirley¹,Shannon Patrick³,Siu Victoria Mok⁴,Darilek Sandra⁵,Mohila Carrie A⁶⁷,Boissel Sarah⁸,Ellezam Benjamin⁸,Fallet‐Bianco Catherine⁹,Laberge Anne‐Marie⁸,Zandberg Julianne⁴,Injeyan Marie¹,Hazrati Lili‐Naz¹⁰,Hamdan Fadi⁸,Chitayat David¹²^ORCID

Affiliation:

1. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai HospitalUniversity of Toronto Toronto Ontario Canada

2. Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick ChildrenUniversity of Toronto Toronto Ontario Canada

3. Department of Pathology and Laboratory Medicine, Mount Sinai HospitalUniversity of Toronto Toronto Ontario Canada

4. Division of Medical Genetics, Department of Pediatrics, London Health Sciences Centre, Schulich School of Medicine and DentistryWestern University London Ontario Canada

5. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

6. Department of PathologyTexas Children's Hospital Houston Texas

7. Department of Pathology and ImmunologyBaylor College of Medicine Houston Texas

8. Department of Medical GeneticsCHU Sainte‐Justine Research Center Montreal Quebec Canada

9. Department of PathologyCHU Sainte‐Justine Montreal Quebec Canada

10. Department of Laboratory Medicine and PathobiologyUniversity of Toronto Toronto Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61025

Reference36 articles.

1. Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients

2. Genotype-phenotype correlations in recessive RYR1-related myopathies

3. Genetics of neuromuscular fetal akinesia in the genomics era

4. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

5. Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing

Cited by 20 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. Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1‐ and NEB‐related congenital myopathies;Prenatal Diagnosis;2024-03-23

2. A novel RYR1 variant in an infant with a unique fetal presentation of central core disease;American Journal of Medical Genetics Part A;2023-03-25

3. Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases;Current Opinion in Pharmacology;2023-02

4. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies;Genes;2023-01-23

5. Fetal arthrogryposis—what do we tell the prospective parents?;Prenatal Diagnosis;2023-01-12