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Article

BCL11B-related disease: a single phenotypic entity?

European journal of human genetics : EJHG - 1 Apr 2025

Vedovato-Dos-Santos J Heather, Tooze Rebecca S, Sithambaram Sivagamy, McCann Emma, Alanay Yasemin, Dogan Ozlem A, Kilercik Meltem, Bingol Aysen, Ozek Memet M, Johnson David, Nellaker Christoffer, Wilkie Andrew O M, Twigg Stephen R F

Abstract excerpt

Craniosynostosis (CRS), the premature fusion of sutures between the skull bones, is characterised by a long "tail" of rare genetic diagnoses. This means that pathogenic variants in many genes are responsible for a minority of cases, and identifying these disease genes and delineating the associated phenotype is extremely important for patient diagnosis and for genetic counselling of families. One such gene is...

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Identifiers

PMID: 40033098
DOI: 10.1038/s41431-025-01824-x
PMCID: PMC11985952

Genes

BCL11B

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