Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Cited by 45 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description;Molecular Biology Reports;2024-08-03
2. Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic <i>NSD1</i> variants: case reports with review of literature;Endocrine Journal;2024
3. A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review;Brain and Behavior;2023-10-31
4. Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome;Genes;2023-01-22
5. Sotos syndrome: A study of antenatal presentation;European Journal of Obstetrics & Gynecology and Reproductive Biology;2022-12
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