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Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy
dc.contributor.authorPande, Shruti
dc.contributor.authorMascarenhas, Selinda
dc.contributor.authorVenkatraman, Aishwarya
dc.contributor.authorBhat, Vivekananda
dc.contributor.authorNarayanan, Dhanya Lakshmi
dc.contributor.authorSiddiqui, Shahyan
dc.contributor.authorBielas, Stephanie
dc.contributor.authorGirisha, Katta Mohan
dc.contributor.authorShukla, Anju
dc.date.accessioned2023-08-01T18:28:23Z
dc.date.available2024-09-01 14:28:21en
dc.date.available2023-08-01T18:28:23Z
dc.date.issued2023-08
dc.identifier.citationPande, Shruti; Mascarenhas, Selinda; Venkatraman, Aishwarya; Bhat, Vivekananda; Narayanan, Dhanya Lakshmi; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju (2023). "Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy." American Journal of Medical Genetics Part A 191(8): 2175-2180.
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.urihttps://hdl.handle.net/2027.42/177398
dc.description.abstractHeterozygous 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 exon 4 of BCL11B. All three individuals presented with the common findings of this disorder i.e. developmental delay, recurrent infections with immunologic abnormalities and facial dysmorphism. Notably, craniosynostosis of variable degree was seen in all three individuals. We, thus add to the evolving genotypes and phenotypes of BCL11B-related BAFopathy and also review the clinical, genomic spectrum along with the underlying disease mechanisms of this disorder.
dc.publisherJohn Wiley & Sons, Inc.
dc.subject.othertranscription factor
dc.subject.otherBAFopathy
dc.subject.otherBCL11B
dc.subject.othercraniosynostosis
dc.subject.otherimmunodeficiency
dc.subject.otherneurodevelopment
dc.titleFurther validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelHuman Genetics
dc.subject.hlbsecondlevelGenetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/177398/1/ajmga63330.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/177398/2/ajmga63330_am.pdf
dc.identifier.doi10.1002/ajmg.a.63330
dc.identifier.sourceAmerican Journal of Medical Genetics Part A
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dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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