Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 2 publications
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: February 02, 2019
Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.
Journal: American journal of medical genetics. Part A
Published: April 24, 2016
Showing 1-2 of 2
Last Updated: 09/26/2026