| 1 | CFNS, EFNB1
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| Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.
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| Shotelersuk V, Kamolvisit W, Rojvachiranonda N, Suphapeetiporn K, Porntaveetus T, Shotelersuk V.
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| Eur J Med Genet ur J Med Genet. 2020 Mar 30:103924. doi: 10.1016/j.ejmg.2020.103924. [Epub ahead of print]
2020
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| 2 | CFNS, EFNB1
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| Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum.
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| Jiang Y, Qian YQ, Yang MM, Zhan QT, Chen Y, Xi FF, Sagnelli M, Dong MY, Zhao BH, Luo Q.
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| Front Genet 10:1201. doi: 10.3389/fgene.2019.01201. eCollection 2019.
2019
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| 3 | CFNS, EFNB1
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| Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
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| Babbs C, Stewart HS, Williams LJ, Connell L, Goriely A, Twigg SR, Smith K, Lester T, Wilkie AO.
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| Hum Mutat 32(8):930-8. doi: 10.1002/humu.21521. Epub 2011 Jul 12.
2011
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| 4 | CFNS, FND1, GLI1, GLI3, KIF3A
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| A primary cilia-dependent etiology for midline facial disorders.
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| Brugmann SA, Allen NC, James AW, Mekonnen Z, Madan E, Helms JA.
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| Hum Mol Genet 19(8):1577-92. Epub 2010 Jan 27.PMID: 20106874 2010
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| 5 | CFNS, EFNB1
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| Additional EFNB1 mutations in craniofrontonasal syndrome.
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| Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M.
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| Am J Med Genet A 146A(15):2008-12. No abstract available.
2008
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| 6 | CFNS, DLL3, EFNB1, FOAR, FRNS, GPC3, LRP2, PAMD, SCDO1, SGBS, STRA6, UNK
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| Genetic aspects of human congenital diaphragmatic hernia.
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| Pober BR.
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| Clin Genet 74(1):1-15. Epub 2008 May 28. 2008
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| 7 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 8 | CFNS, EFNB1, OPHN1, PJA1, EDA
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| Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
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| Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P.
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| Clin Genet 72(6):506-16. Epub 2007 Oct 16. 2007
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| 9 | CFNS, EFNB1
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| Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
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| Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P.
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| Eur J Hum Genet [Epub ahead of print] 2007
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| 10 | CFNS, EFNB1
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| Subtypes of frontonasal dysplasia are useful in determining clinical prognosis.
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| Wu E, Vargevik K, Slavotinek AM.
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| Am J Med Genet A 143(24):3069-78. 2007
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| 11 | EFNB1, CFNS
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| The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males.
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| Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO.
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| Am J Hum Genet 78(6):999-1010. Epub 2006 Apr 28. 2006
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| 12 | EFNB1, CFNS
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| Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
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| Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie AO.
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| Eur J Hum Genet 14(7):884-7. Epub 2006 Apr 26. 2006
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| 13 | CFNS, EFNB1
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| Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
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| Wieacker P, Wieland I.
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| Mol Genet Metab 86(1-2):110-6. 2005
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| 14 | EFNB1, CFNS
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| Mutations of the ephrin-b1 gene cause craniofrontonasal syndrome.
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| Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P.
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| Am J Hum Genet 74(6):1209-15. Epub 2004 Apr 29. 2004
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| 15 | EFNB1, CFNS
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| Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
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| Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO.
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| Proc Natl Acad Sci U S A 101(23):8652-7. Epub 2004 May 27. 2004
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| 16 | CFNS
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| Mapping of a further locus for X-linked craniofrontonasal syndrome.
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| Wieland I, Jakubiczka S, Muschke P, Wolf A, Gerlach L, Krawczak M, Wieacker P.
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| Cytogenet Genome Res 99(1-4):285-8. 2002
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| 17 | CFNS
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| Further evidence from two families that craniofrontonasal dysplasia maps to Xp22.
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| Pulleyn LJ, et al.
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| Clin Genet 55(6):473-7. 1999
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| 18 | CFNS
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| A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.
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| Feldman GJ, Ward DE, Lajeunie-Renier E, Saavedra D, Robin NH, Proud V, Robb LJ, Der Kaloustian V, Carey JC, Cohen MM Jr, Cormier V, Munnich A, Zackai EH, Wilkie AO, Price RA, Muenke M.
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| Hum Mol Genet 6(11):1937-41. 1997
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| 19 | CFNS
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| Craniofrontonasal dysplasia in a girl with del(X) (p22.2).
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| McPherson E, et al.
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| Am J Hum Genet 49S : 150. 1991
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