Associated Papers
Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.
Al Kaissi A et al.
Minerva Pediatrics, 2024
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Is webbing (pterygia) a constant feature in patients with Escobar syndrome?
Al Kaissi A et al.
Orthopaedic Surgery, 2013
Select a paper to view details