De novo deletion ofTBL1XR1in a child with non-specific developmental delay supports its implication in intellectual disability-Reference-Cited by-同舟云学术

De novo deletion ofTBL1XR1in a child with non-specific developmental delay supports its implication in intellectual disability

Published:2014-05-28 Issue:9 Volume:164 Page:2335-2337
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Tabet Anne-Claude¹,Leroy Camille¹,Dupont Céline¹,Serrano Emilie¹,Hernandez Karen¹,Gallard Jennifer¹,Pouvreau Nathalie¹,Gadisseux Jean-François²,Benzacken Brigitte¹,Verloes Alain¹

Affiliation:

1. Department of Genetics; APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR 1141 “PROTECT”; Paris France

2. Pediatrician; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36619/fullpdf

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1. The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects;Orphanet Journal of Rare Diseases;2024-02-20

2. Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants;Gene;2023-11

3. A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome;Cytogenetic and Genome Research;2023-10-16

4. A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report;Medicine;2023-05-12

5. Rare variant of TBL1XR1 in West syndrome: A case report;Molecular Genetics & Genomic Medicine;2022-05-25