Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants have been reported to date. Here, through comprehensive geno...

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Detalles Bibliográficos
Autores principales: Eto, Kaoru, Machida, Osamu, Yanagishita, Tomoe, Shimojima Yamamoto, Keiko, Chiba, Kentaro, Aihara, Yasuo, Hasegawa, Yuuki, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Nagata, Satoru, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9722650/
https://www.ncbi.nlm.nih.gov/pubmed/36470856
http://dx.doi.org/10.1038/s41439-022-00220-x

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