Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference22 articles.
1. Syndrome disintegration: exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events;Armour;Am. J. Med. Genet.,2016
2. Lessons learned from additional research analyses of unsolved clinical exome cases;Eldomery;Genome Med.,2017
3. A specific mutation in TBL1XR1 causes Pierpont syndrome;Heinen;J. Med. Genet.,2016
4. Pierpont syndrome: report of a new patient;Kahlert;Clin. Dysmorphol.,2017
5. High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders;Kobayashi;Brain Dev.,2016
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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 de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome;American Journal of Medical Genetics Part A;2023-02-26
4. Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome;Journal of Investigative Medicine High Impact Case Reports;2023-01
5. Rare variant of TBL1XR1 in West syndrome: A case report;Molecular Genetics & Genomic Medicine;2022-05-25
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