Condition: Craniosynostosis
rs1057520044 in
FGFR2 gene and
Craniosynostosis
PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
rs121913105 in
FGFR3 gene and
Craniosynostosis
PMID 26818779 2016 Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
PMID 11055896 2000 Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
PMID 17875876 2007 Familial acanthosis nigricans due to K650T FGFR3 mutation.
PMID 25809207 2016 Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
PMID 18583390 2008 Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
PMID 17033969 2006 A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
PMID 27139183 2016 A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.
PMID 11879084 2002 Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.
PMID 25606676 2015 Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
PMID 17384684 2007 Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer.
PMID 19749790 2009 Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.
PMID 8589699 1995 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
PMID 11038465 2000 Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
PMID 19088846 2008 Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.
PMID 24476948 2014 Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
PMID 28249712 2017 Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
PMID 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
PMID 20453470 2010 FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
PMID 25614871 2014 FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
PMID 21739570 2011 Achondroplasia with synostosis of multiple sutures.
PMID 22045636 2012 Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
PMID 25691418 2015 Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
PMID 8723101 1996 Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
PMID 18976668 2008 Pathogenic activation of receptor tyrosine kinases in mammalian membranes.
PMID 20199409 2010 A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?
PMID 21536014 2011 The A391E mutation enhances FGFR3 activation in the absence of ligand.
PMID 11426459 2001 Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
PMID 23437153 2013 Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.
PMID 7493034 1995 Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
PMID 8880573 1996 A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
PMID 8589686 1995 A common FGFR3 gene mutation in hypochondroplasia.
PMID 9452043 1998 Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
PMID 23149434 2012 Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
PMID 23165795 2012 Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
PMID 7670477 1995 A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
PMID 11754059 2001 Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
PMID 10360392 1999 Achondroplasia-hypochondroplasia complex in a newborn infant.
PMID 10094188 1999 Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
PMID 15915095 2005 FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
PMID 26740388 2016 Muenke syndrome: An international multicenter natural history study.
PMID 10861678 2000 Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
PMID 9042914 1997 A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
PMID 14613973 2004 Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively.
PMID 21510009 2011 Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
rs786200952 in
KAT6A gene and
Craniosynostosis
PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.