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Article

Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?

European journal of medical genetics - 1 Jul 2023

Sarma Asodu Sandeep, Peter Mathew Rohan, Dalal Ashwin, Bhat Venkatraman, Patil Siddaramappa Jagdish

Abstract excerpt

Autosomal recessive CYP26B1 disorder is characterised by syndromic craniosynostosis of variable severity, and survival ranging from prenatal lethality to survival into adulthood. Here we report on two related individuals of Asian-Indian origin with syndromic craniosynostosis characterised by craniosynostosis, and dysplastic radial heads, caused by monoallelic CYP26B1 likely pathogenic variant...

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Identifiers

PMID: 37100236
DOI: 10.1016/j.ejmg.2023.104772

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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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