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Article

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.

American journal of medical genetics. Part A - 1 Aug 2023

Pande Shruti, Mascarenhas Selinda, Venkatraman Aishwarya, Bhat Vivekananda, Narayanan Dhanya Lakshmi, Siddiqui Shahyan, Bielas Stephanie, Girisha Katta Mohan, Shukla Anju

Abstract excerpt

Heterozygous disease-causing variants in BCL11B are the basis of a rare neurodevelopmental syndrome with craniofacial and immunological involvement. Isolated craniosynostosis, without systemic or immunological findings, has been reported in one of the 17 individuals reported with this disorder till date. We report three additional individuals harboring de novo heterozygous frameshift variants, all lying in the...

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Identifiers

PMID: 37337996
DOI: 10.1002/ajmg.a.63330
PMCID: PMC10448182

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