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Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report
INSTRUCTION: Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in dev...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728844/ https://www.ncbi.nlm.nih.gov/pubmed/29245229 http://dx.doi.org/10.1097/MD.0000000000008729 |