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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
BACKGROUND: ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course. CASE PRESENTAT...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201657/ https://www.ncbi.nlm.nih.gov/pubmed/32370745 http://dx.doi.org/10.1186/s12881-020-01015-z |