Ahmet Okay Caglayan Sinan Comu Jacob F Baranoski Yesim Parman Hande Kaymakçalan Gozde Tugce Akgumus Caner Caglar Duygu Dolen Emine Zeynep Erson-Omay Akdes Serin Harmanci Ketu Mishra-Gorur Hudson H Freeze Katsuhito Yasuno Kaya Bilguvar Murat Gunel
10.1016/j.ejmg.2014.08.008
Eur J Med Genet
2015 Jan;58(1):39-43.
deglycosylation intellectual disability ngly1 neuromotor defect whole-exome sequencing
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/25220016/
Developmental Disabilities / genetics Intellectual Disability / genetics Movement Disorders / genetics Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / genetics Peripheral Nervous System Diseases / genetics
Developmental Disabilities / genetics Intellectual Disability / genetics Movement Disorders / genetics Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / genetics Peripheral Nervous System Diseases / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Abnormalities, Multiple / genetics Adolescent Child Corneal Opacity / genetics Female Frameshift Mutation Genotype Humans Male Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
PMC4804755
25220016
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
2015