Associated Papers
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 2025
Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.
Al Kaissi A et al.
Minerva Pediatrics, 2024
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.
Almubarak A et al.
Genes, 2022
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.
Najjar D et al.
Genes, 2022
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
Mellis R et al.
Bjog : an International Journal of Obstetrics and Gynaecology, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M et al.
Genes, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L et al.
American Journal of Medical Genetics. Part A, 2019
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX et al.
American Journal of Human Genetics, 2015
Is webbing (pterygia) a constant feature in patients with Escobar syndrome?
Al Kaissi A et al.
Orthopaedic Surgery, 2013
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