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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...

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Detalles Bibliográficos
Autores principales: Körberg, Izabella, Nowinski, Daniel, Bondeson, Marie-Louise, Melin, Malin, Kölby, Lars, Stattin, Eva-Lena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
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