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Article

Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion.

Birth defects research - 1 Jun 2020

Bukowska-Olech Ewelina, Dmitrzak-Węglarz Monika, Larysz Dawid, Wojciechowicz Bartosz, Simon Dorota, Walczak-Sztulpa Joanna, Jamsheer Aleksander

Abstract excerpt

OBJECTIVE: Craniosynostosis (CS) is the premature fusion of the cranial sutures, occurring either in isolated or syndromic form. Syndromic CS, which was described in over 180 genetic syndromes, accounts for 15-30% of all CS cases and usually originates from mutations within the FGFR1, FGFR2, FGFR3, and TWIST1 genes. However, causative alterations in other genes, or rarely copy number variations (CNVs) were also...

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PMID: 32529787
DOI: 10.1002/bdr2.1744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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