Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda

Abstract Background In 30% of patients who exhibit the clinical profile of Cornelia de Lange Syndrome (CdLS), the genetic cause remains undetermined. This proportion tends to be higher in low-resource settings including Africa. We performed a molecular characterization of CdLS in a multiplex Rwandan...

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Bibliographic Details
Main Authors:	Esther Uwibambe, Abdoulaye Yalcouyé, Elvis Twumasi Aboagye, Lettilia Xhakaza, Kalinka Popel, Norbert Dukuze, Thashi Bharadwaj, Carmen de Kock, Isabelle Schrauwen, Suzanne M. Leal, Leon Mutesa, Ambroise Wonkam
Format:	Article
Language:	English
Published:	BMC 2025-05-01
Series:	BMC Medical Genomics
Subjects:	Cornelia de Lange Syndrome Whole exome sequencing TRMT61 A
Online Access:	https://doi.org/10.1186/s12920-025-02153-0
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Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda

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