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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...
Gorde:
| Argitaratua izan da: | Medicine (Baltimore) |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wolters Kluwer Health
2017
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| Gaiak: | |
| Sarrera elektronikoa: | 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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