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Craniofrontonasal syndrome

Craniofrontonasal syndrome (CFNS) is a human X-linked developmental disorder caused by a mutation in ephrin-B1 affecting mainly females. Characterised by abnormal development of cranial and nasal bones, craniosynostosis (premature coronal suture fusion), and other extracranial anomalies (limb polydactyly and syndactyly).

Reference

Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM & Wilkie AO. (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc. Natl. Acad. Sci. U.S.A. , 101, 8652-7. PMID: 15166289 DOI.


Copyright

Proceedings National Academy of Sciences (PNAS) Liberalization of PNAS copyright policy: Noncommercial use freely allowed Note original Author should be contacted for permission to reuse for Educational purposes. See also PNAS Author Rights and Permission FAQs

Cozzarelli NR, Fulton KR, Sullenberger DM. Liberalization of PNAS copyright policy: noncommercial use freely allowed. Proc Natl Acad Sci U S A. 2004 Aug 24;101(34):12399. PMID15314225 "Our guiding principle is that, while PNAS retains copyright, anyone can make noncommercial use of work in PNAS without asking our permission, provided that the original source is cited."

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current23:51, 2 August 2010Thumbnail for version as of 23:51, 2 August 20101,280 × 543 (130 KB)S8600021 (talk | contribs)==Craniofrontonasal syndrome== Craniofrontonasal syndrome (CFNS) is a human X-linked developmental disorder caused by a mutation in ephrin-B1 affecting mainly females. Characterised by abnormal development of cranial and nasal bones, craniosynostosis (pr

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