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.