Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2008 Aug 1;146A(15):2008-12.
doi: 10.1002/ajmg.a.32388.

Additional EFNB1 mutations in craniofrontonasal syndrome

Deeann Wallis  1 , Felicitas Lacbawan, Mahim Jain, Vazken M Der Kaloustian, Carlos E Steiner, John B Moeschler, H Wolfgang Losken, Ilkka I Kaitila, Stephen Cantrell, Virginia K Proud, John C Carey, Donald W Day, Dorit Lev, Ahmad S Teebi, Luther K Robinson, H Eugene Hoyme, Nadia Al-Torki, Jacqueline Siegel-Bartelt, John B Mulliken, Nathaniel H Robin, Dolores Saavedra, Elaine H Zackai, Maximilian Muenke
Affiliations

Additional EFNB1 mutations in craniofrontonasal syndrome

Deeann Wallis et al. Am J Med Genet A. .
No abstract available

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Schematic diagram of the EFNB1 mutation spectrum in patients with CFNS. Mutations identified in the present study are listed below the putative EFNB1 protein structure, those published previously are above.
See this image and copyright information in PMC

References

    1. Chin-Sang I, George S, Ding M, Moseley S, Lynch A, Chisholm A. The ephrin VAB-2/EFN-1 functions in neuronal signaling to regulate epidermal morphogenesis in C. elegans. Cell. 1999;99:781–790. - PubMed
    1. Compagni A, Logan M, Klein R, Adams R. Control of skeletal patterning by ephrinB1-EphB interactions. Dev Cell. 2003;5:217–230. - PubMed
    1. Davy A, Aubin J, Soriano P. Ephrin-B1 forward and reverse signaling are required during mouse development. Genes Dev. 2004;18:572–583. - PMC - PubMed
    1. 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. A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22. Hum Mol Genet. 1997;6:1937–1941. - PubMed
    1. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. Oxford monographs on medical genetics. 4. New York, NY: Oxford University Press; 2001.