Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA.
|
29995760 |
2018 |
Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic series of frontometaphyseal dysplasia also comprise variants in FLNA (type 1) and two patients with a heterozygous variant in TAB2 (type 3).
|
29467388 |
2018 |
Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.
|
28348077 |
2017 |
Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients.
|
28498505 |
2017 |
Frontometaphyseal dysplasia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
Frontometaphyseal dysplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD).
|
26404489 |
2016 |
Frontometaphyseal dysplasia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association of mutations in FLNA with craniosynostosis.
|
25873011 |
2015 |
Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
High phenotypic diversity, ranging from PH to otopalatodigital syndrome and frontometaphyseal dysplasia has been described in association with FLNA mutations.
|
20888935 |
2011 |
Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of the FLNA gene, which encodes for the protein filamin A, have recently been shown to cause OPD2 and the allelic syndromes otopalatodigital type 1, Melnick-Needles, and frontometaphyseal dysplasia.
|
17431908 |
2007 |
Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Frontometaphyseal dysplasia (FMD) belongs to a group of overlapping skeletal dysplasias, the common molecular basis of which are mutations of FLNA, the gene encoding filamin A.
|
16596676 |
2006 |
Frontometaphyseal dysplasia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Frontometaphyseal dysplasia (FMD) belongs to a group of overlapping skeletal dysplasias, the common molecular basis of which are mutations of FLNA, the gene encoding filamin A.
|
16596676 |
2006 |
Frontometaphyseal dysplasia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
|
16835913 |
2006 |
Frontometaphyseal dysplasia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Frontometaphyseal dysplasia (FMD) belongs to a group of overlapping skeletal dysplasias, the common molecular basis of which are mutations of FLNA, the gene encoding filamin A.
|
16596676 |
2006 |
Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
|
16835913 |
2006 |
Frontometaphyseal dysplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD).
|
15940695 |
2005 |
Frontometaphyseal dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
|
14988809 |
2004 |
Frontometaphyseal dysplasia
|
0.700 |
Biomarker
|
disease |
CTD_human |
We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350).
|
12612583 |
2003 |
Frontometaphyseal dysplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350).
|
12612583 |
2003 |