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Article

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.

American journal of medical genetics. Part A - 1 Dec 2020

Sasaki Erina, Byrne Angela T, Murray Dylan J, Reardon William

Abstract excerpt

We report clinical and radiological features of a patient born with an isolated skull malformation of caput membranaceum and partial bicoronal craniosynostosis with a novel, de novo heterozygous missense variant in ZIC1 [NM_003412.3:c.1183C>G, p.(Pro395Ala)]. Caput membranaceum, or boneless skull, is a rare manifestation of skull ossification defect. It can result from an isolated, enlarged parietal foramina or...

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PMID: 32975022
DOI: 10.1002/ajmg.a.61882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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