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kw.\*:("Crâniofrontonasal syndrome")

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Additional EFNB1 Mutations in Craniofrontonasal SyndromeWALLIS, Deeann; LACBAWAN, Felicitas; CAREY, John C et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 15, pp 2008-2012, issn 1552-4825, 5 p.Article

Diverse Clinical and Genetic Aspects of Craniofrontonasal SyndromeZAFEIRIOU, Dimitrios I; PAVLIDOU, Efterpi L; VARGIAMI, Euthymia et al.Pediatric neurology. 2011, Vol 44, Num 2, pp 83-87, issn 0887-8994, 5 p.Article

Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers : New syndrome?HAMAMY, Hanan A; TEEBI, Ahmad S; OUDJHANE, Kamaldine et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 3, pp 229-234, issn 1552-4825, 6 p.Article

A Novel EFNB1 Mutation (c.712delG) in a Family With Craniofrontonasal Syndrome and Diaphragmatic HerniaHOGUE, Jacob; SHANKAR, Suma; PERRY, Hazel et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2574-2577, issn 1552-4825, 4 p.Article

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic herniaVASUDEVAN, Pradeep C; TWIGG, Stephen R. F; MULLIKEN, John B et al.European journal of human genetics. 2006, Vol 14, Num 7, pp 884-887, issn 1018-4813, 4 p.Article

Mapping of a further locus for X-linked craniofrontonasal syndromeWIELAND, I; JAKUBICZKA, S; MUSCHKE, P et al.Cytogenetic and genome research. 2003, Vol 99, Num 1-4, pp 285-288, issn 1424-8581, 4 p.Article

Craniofrontonasal syndrome : study of 41 patientsSAAVEDRA, D; RICHIERI-COSTA, A; GUION-ALMEIDA, M. L et al.American journal of medical genetics. 1996, Vol 61, Num 2, pp 147-151, issn 0148-7299Article

Craniofrontonasal syndrome and diaphragmatic herniaMCGAUGHRAN, Julie; REES, Martin; BATTIN, Malcom et al.American journal of medical genetics. 2002, Vol 110, Num 4, pp 391-392, issn 0148-7299Article

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndromeWIELAND, I; WEIDNER, C; WIEACKER, P et al.Clinical genetics. 2007, Vol 72, Num 6, pp 506-516, issn 0009-9163, 11 p.Article

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