Latest Research on PACS1

Research continues to be ongoing for PACS1 Syndrome.  Below please find links to academic papers regarding this very rare syndrome.

What is PACS1 Related Syndrome?

American Journal of Medical Genetics

Clinical Delineation of the PACS1-Related Syndrome—Report on 19 Patients

Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability

Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome from American Journal of Human Genetics

PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1 from the Online Mendelian Inheritance in Man® An Online Catalog of Human Genes and Genetic Disorders

PACS1 Infographic-1 (1)