rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
19603532
2009
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Holoprosencephaly-like phenotype: clinical and genetic perspectives.
17001669
2006
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation.
15942953
2005
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.
15942952
2005
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.
16282375
2005
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
15107988
2004
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
15221788
2004
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
11479728
2001
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
10556296
1999
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
10441331
1999
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
9302262
1997
rs587778805
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
HOLOPROSENCEPHALY 3
0.700
GeneticVariation
UNIPROT
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
8896572
1996