Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
Biomarker
|
disease |
BEFREE |
Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1-related disorders such as Hartsfield syndrome, hypogonadotropic hypogonadism with or without anosmia, Jackson-Weiss syndrome, osteoglophonic dysplasia, Pfeiffer syndrome, and trigonocephaly Type 1.
|
31512363 |
2019 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
This study expands the FGFR1 mutational spectrum associated with HS, provides functional evidence further supporting a dominant-negative effect of this category of FGFR1 variants and offers initial insights on dysregulation of autophagy in HS.
|
30787447 |
2019 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
|
26931467 |
2016 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
|
27363716 |
2016 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
|
25759380 |
2015 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
|
25394172 |
2015 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism.
|
24888332 |
2014 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism.
|
24888332 |
2014 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism.
|
24888332 |
2014 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice.
|
23812909 |
2013 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice.
|
23812909 |
2013 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice.
|
23812909 |
2013 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice.
|
23812909 |
2013 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice.
|
23812909 |
2013 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
|
12627230 |
2003 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|