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Article

[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jun 2018

Zhao Min

Abstract excerpt

Three boys aged 7-13 months visited the hospital due to unusual facies (prominent forehead, hypertelorism, or long mandible), motor developmental delay, and mental retardation. As for body length and head circumference, only one patient had a head circumference of >2 SD. Two patients had an advanced bone age, one had electroencephalographic abnormalities, and 3 had enlarged ventricles on head CT. The whole-genome...

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Identifiers

PMID: 29972123
PMCID: PMC7389955

Genes

NSD1

Variants

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Related research

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[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].PMID 29972123Read ↗

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[Mixed clinical phenotype of deletion and duplication of the Sotos syndrome region: 5q35.2-q35.3 microdeletion detected by CGH array].Semantic proximity Read ↗

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.Semantic proximity Read ↗

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