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FGFR-Associated Craniosynostosis Syndromes and Gastrointestinal Defects

Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS) and Apert (AS) syndrome, with clinical characteristics such as midface hypoplasia, hypertelorism and i...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Hibberd, C, Bowdin, S, Arudchelvan, Y, Forrest, CR, Brakora, KA, Marcucio, RS, Gong, S-G
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5503117/
https://ncbi.nlm.nih.gov/pubmed/27481450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37862
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