Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene

Author:

Takkar Aashita,Arora VeronicaORCID,Saxena Renu,Kumar Praveen,Verma IC

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference9 articles.

1. Tatton-Brown K, Cole TRP, Rahman N. Sotos syndrome. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2004.

2. Novara F, Stanzial F, Rossi E, et al. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. Am J Med Genet A. 2014;164A:2084–90.

3. Dikow N, Maas B, Gaspar H, et al. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? Am J Med Genet A. 2013;161A:2158–66.

4. OMIM entry - * 606681 - NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1. (n.d.). OMIM. Available at: https://www.omim.org/entry/606681. Accessed on 12 Dec 2021.

5. Leite AJ, Pinto IP, Cunha DM, et al. The identification of microdeletion and reciprocal microduplication in 22q11.2 using high-resolution CMA technology. Biomed Res Int. 2016;2016:7415438.

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