Condition: Donnai-Barrow syndrome
rs760114690
in
LRP2
gene and
Donnai-Barrow syndrome
PMID 12923867
2003 Donnai-Barrow syndrome: four additional patients.
PMID 17632512
2007 Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.