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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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| Publicat a: | Medicine (Baltimore) |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer Health
2017
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| Matèries: | |
| Accés en línia: | 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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