Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
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
Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor.
Nazari T et al.
International Journal of Molecular and Cellular Medicine, 2019
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2012
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
Vogt J et al.
Journal of Medical Genetics, 2012
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
Morgan NV et al.
American Journal of Human Genetics, 2006
Select a paper to view details