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Article

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.

BMC medical genetics - 5 May 2020

Körberg Izabella, Nowinski Daniel, Bondeson Marie-Louise, Melin Malin, Kölby Lars, Stattin Eva-Lena

Abstract excerpt

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 PRESENTATION: Two subjects; a boy with a BLSS requiring repeated skull expansions and his mother who had been operated once...

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Identifiers

PMID: 32370745
DOI: 10.1186/s12881-020-01015-z
PMCID: PMC7201657

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