Autosomal Dominant Spastic Paraplegia With Dysregulation of Bowel Function Associated With Heterozygous AP4S1 Gene Mutation
Author:
Affiliation:
1. From Clinic Victor Pauchet, Amiens, France.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Link
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200140
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1. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
2. gnomAD Browswer. Accessed March 22 2024. gnomad.broadinstitute.org
3. Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
4. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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