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Article

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

Indian journal of pediatrics - 1 Nov 2022

Takkar Aashita, Arora Veronica, Saxena Renu, Kumar Praveen, Verma I C

Abstract excerpt

Sotos syndrome is caused by heterozygous pathogenic variants or deletions in the long arm of chromosome 5 encompassing NSD1. The cardinal features of this condition are overgrowth, macrocephaly, and intellectual disability. Conversely, duplications leading to an extra copy of NSD1 result in a reverse phenotype that is observed in duplication/microduplication of the 5q region. An 11-y-old boy was referred to the...

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PMID: 35925544
DOI: 10.1007/s12098-022-04325-7

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