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437 Possible Causes for EFNB1,, MET158ILE

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  • Craniofrontonasal Dysplasia

    B, Missense mutation, p.Arg156Cys (denoted by ), in the RBD of EFNB1. The protein structure of human EFNB1 is shown at the top.[ncbi.nlm.nih.gov] Show Summary Details (p. 651) Craniofrontonasal Syndrome and EFNB1 Mutations Chapter: (p. 651) Craniofrontonasal Syndrome and EFNB1 Mutations Peter Wieacker and Judit Horvath[oxfordmedicine.com] Patients with EFNB1 mutations have a clear phenotype.[nature.com]

    Missing: MET158ILE
  • Frontonasal Dysplasia

    Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis[ncbi.nlm.nih.gov] Efnb1 / ) mutants.[doi.org] Patients with EFNB1 mutations have a clear phenotype.[nature.com]

    Missing: MET158ILE
  • Bifid Nose

    Patients with EFNB1 mutations have a clear phenotype.[nature.com] Può essere causata da mutazioni nel gene EFNB1 sul cromosoma Xq12.[med2000eco.it] […] dysplasia, autosomal dominant ANKH Del Dup NGS Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1[ctgt.net]

    Missing: MET158ILE
  • Ehlers-Danlos Syndrome Type Progeroid

    […] dysplasia, autosomal dominant ANKH Del Dup NGS Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1[ctgt.net] […] dysplasia, autosomal dominant SOST Sanger Del Dup NGS Cranioectodermal dysplasia 2 WDR35 Del Dup NGS Cranioectodermal dysplasia 4 WDR19 Del Dup NGS Craniofrontonasal syndrome EFNB1[ctgt.net]

    Missing: MET158ILE
  • Autosomal Recessive Ichthyosis with Hypotrichosis ARCI11

    […] dysplasia, autosomal dominant ANKH Del Dup NGS Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1[ctgt.net] […] dysplasia, autosomal dominant SOST Sanger Del Dup NGS Cranioectodermal dysplasia 2 WDR35 Del Dup NGS Cranioectodermal dysplasia 4 WDR19 Del Dup NGS Craniofrontonasal syndrome EFNB1[ctgt.net]

    Missing: MET158ILE
  • Ehlers-Danlos Syndrome, Progeroid Form

    […] dysplasia, autosomal dominant ANKH Del Dup NGS Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1[ctgt.net] […] del dup Craniofrontonasal dysplasia (CFND) EFNB1 del dup Craniofrontonasal syndrome (CFNS) EFNB1 del dup Craniomandibular dermatodysostosis LMNA del Cranioosteoarthropathy[uniklinik-freiburg.de] […] dysplasia, autosomal dominant SOST Sanger Del Dup NGS Cranioectodermal dysplasia 2 WDR35 Del Dup NGS Cranioectodermal dysplasia 4 WDR19 Del Dup NGS Craniofrontonasal syndrome EFNB1[ctgt.net]

    Missing: MET158ILE
  • Craniofacial Dysplasia

    […] or the mutated EFNB1.[en.wikipedia.org] Può essere causata da mutazioni nel gene EFNB1 sul cromosoma Xq12.[med2000eco.it] Research has identified the affected gene as the EFNB1 or EphrinB1 gene on the X chromosome.[gosh.nhs.uk]

    Missing: MET158ILE
  • Amelogenesis Imperfecta Type 1G with Nephrocalcinosis

    ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, ALX4, EP300, EFNB1[mendelian.co] […] type II ( CPT2) CPT II deficiency, lethal neonatal ( CPT2) Cranioectodermal dysplasia ( IFT122) Craniofacial-deafness-hand syndrome ( PAX3) Craniofrontonasal dysplasia ( EFNB1[en.praenatal-medizin.de] IB, 614437 (3) EFHC1 608815 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3) EFHC1 608815 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3) EFNB1[usegalaxy.org]

    Missing: MET158ILE
  • Craniosynostosis

    In this study, we performed targeted, massively parallel sequencing using a next-generation sequencer, and identified a novel EFNB1 mutation, c.270_271delCA, in a Japanese[ncbi.nlm.nih.gov] Mutations in 7 genes are unequivocally associated with mendelian forms of syndromic craniosynostosis: FGFR1, FGFR2, FGFR3, TWIST1, EFNB1, MSX2 and RAB23.[ncbi.nlm.nih.gov] Genes most commonly mutated in craniosynostosis are FGFR2 , FGFR3 , TWIST1 and EFNB1 .[nature.com]

    Missing: MET158ILE
  • Spondyloepimetaphyseal Dysplasia Type Geneviève

    ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, ALX4, EP300, EFNB1[mendelian.co] Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).[williereardon.ie] TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, TBX19, LHX4, LHX3, ALX4, EP300, EFNB1[mendelian.co]

    Missing: MET158ILE

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