Condition: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy


rs397514700 in ANTXR1 gene and Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy PMID 23602711 2013 Mutations in ANTXR1 cause GAPO syndrome.

PMID 25045128 2014 Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.