Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

Conclusion The aetiological management for patients with AMC remains arduous. This process will be facilitated by the increasing use of next-generation sequencing combined with detailed phenotyping. Invasive investigations should be avoided because of their limited yield.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clinical guidelines Source Type: research