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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...

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Bibliografiska uppgifter
I publikationen:Medicine (Baltimore)
Huvudupphovsmän: Yu, Dongyi, Li, Shuo, Liu, Qi, Zhang, Kai
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wolters Kluwer Health 2017
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5728844/
https://ncbi.nlm.nih.gov/pubmed/29245229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000008729
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