Condition: HOLOPROSENCEPHALY 7
rs138911275 in
PTCH1 gene and
HOLOPROSENCEPHALY 7
PMID 17096318 2006 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
rs199476092 in
PTCH1;LOC100507346 gene and
HOLOPROSENCEPHALY 7
PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
PMID 17096318 2006 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.