BCL11B-related disorder in two canadian children: Expanding the clinical phenotype-Reference-Cited by-同舟云学术

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BCL11B-related disorder in two canadian children: Expanding the clinical phenotype

Published:2020-09 Issue:9 Volume:63 Page:104007
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Prasad M.,Balci T.B.,Prasad C.,Andrews J.D.,Lee R.,Jurkiewicz M.T.,Napier M.P.,Colaiacovo S.,Guillen Sacoto M.J.,Karp N.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference16 articles.

1. Brain malformations in a patient with deletion 2p16. 1: a refinement of the phenotype to BCL11A;Balci;Eur. J. Med. Genet.,2015

2. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations;Basak;J. clin. Invest.,2015

3. Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype;Brendel;J. clin. Invest.,2016

4. BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription;Dias;Am. J. Hum. Genet.,2016

5. A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis;Goos;Hum. Mol. Genet.,2019

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1. BCL11B‐Related Dystonia: Further Evidence of an Emerging Cause of Childhood‐Onset Generalized Dystonia;Movement Disorders Clinical Practice;2024-05-27

2. KCTD10 regulates brain development by destabilizing brain disorder–associated protein KCTD13;Proceedings of the National Academy of Sciences;2024-03-15

3. Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective;Genes & Immunity;2024-03-12

4. A Bcl11bN797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice;Frontiers in Immunology;2024-03-01

5. The Role of Bcl11 Transcription Factors in Neurodevelopmental Disorders;Biology;2024-02-17

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