Condition: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
rs397515481
in
FGFR1
gene and
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
PMID 24888332
2014 Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
PMID 23812909
2013 FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.