Concepedia

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

Marijke E.P. van den Elzen, Stephen R.F. Twigg, Jacqueline A.C. Goos, A. Jeannette M. Hoogeboom, A.M.W. van den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen

European Journal of Human Genetics · 2013 · 55 citations · 30 references

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Concepts

References

30

Mutations of ephrin-B1 ( <i>EFNB1</i> ), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Stephen R.F. Twigg, Rui Kan, Christian Babbs et al. · Proceedings of the National Academy of Sciences · 2004 · 340 citations · Full text

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Anthropometric facial proportions in medicine

Journal of Oral and Maxillofacial Surgery · 1988 · 293 citations

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Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Ilse Wieland, Sibylle Jakubiczka, Petra Muschke et al. · The American Journal of Human Genetics · 2004 · 242 citations · Full text

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Control of Skeletal Patterning by EphrinB1-EphB Interactions

Amelia Compagni, Malcolm Logan, Rüdiger Klein et al. · Developmental Cell · 2003 · 232 citations · Full text

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Inhibition of Gap Junction Communication at Ectopic Eph/ephrin Boundaries Underlies Craniofrontonasal Syndrome

Alice Davy, Jeffrey O. Bush, Philippe Soriano · PLoS Biology · 2006 · 154 citations · Full text

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