Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF.

Eur J Hum GenetJul 18, 2026 (epub)
Case ReportMedical GeneticsNeurologyOpen access

Meghan R Mulligan, Heather Mulhall, Samuel R A Hawarden et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Strømme syndrome (MIM 243605) or a form of syndromic microcephaly have both been reported to be caused by biallelic variants in CENPF. The common features associated with CENPF variants are microcephaly, jejunal atresia and eye abnormalities, but additional case reports have indicated more variable presentations.

Source

PubMed · PMID 42471516Free full text on PubMed Central

Published in Eur J Hum Genet. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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