Sotos Syndrome
What's New
Last Posted: Apr 25, 2023
- Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
Siracusano Martina, et al. American journal of medical genetics. Part A 2023 0 - An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Yüksel Ülker Aylin, et al. American journal of medical genetics. Part A 2023 0 - The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients.
Machida Masafumi, et al. Spine 2020 0 (13) E726-E733 - DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.
Peeters Silke, et al. The Journal of clinical endocrinology and metabolism 2020 0 (12) - [Genetic analysis of a child with Sotos syndrome].
Luo Yuqin, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (2) 127-130 - Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Moirangthem Amita, et al. American journal of medical genetics. Part A 2021 0 (8) 2345-2355 - Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli Marco, et al. Genes 2022 0 (11) - Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021 - Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.
Yu Xian-Xian, et al. Pediatric research 2020 5 - Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.
Martin-Herranz Daniel E, et al. Genome biology 2019 0 0. (1) 146
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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