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Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically...

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Pubblicato in:Plast Reconstr Surg Glob Open
Autori principali: Chauhan, Bharesh K., Hoover, Jacqueline M., Scanga, Hannah, Medsinge, Anagha, Arnold, Georgianne L., Nischal, Ken K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer Health 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4494497/
https://ncbi.nlm.nih.gov/pubmed/26180728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GOX.0000000000000369
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