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Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
Craniosynostosis (CS) refers to the group of craniofacial malformations characterized by the premature closure of one or more cranial sutures. The disorder is clinically and genetically heterogeneous and occurs usually as an isolated trait, but can also be syndromic. In 30–60% of patients, CS is cau...
Enregistré dans:
| Publié dans: | J Appl Genet |
|---|---|
| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Springer Berlin Heidelberg
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6060980/ https://ncbi.nlm.nih.gov/pubmed/29845577 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-018-0447-4 |
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