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NSD1 mutations in Sotos syndrome

✍ Scribed by Francesca Faravelli


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
101 KB
Volume
137C
Category
Article
ISSN
1552-4868

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Sotos syndrome is a relatively common overgrowth syndrome with characteristic physiognomy. We report on 3 patients with congenital heart defects out of 14 Sotos syndrome patients studied clinically and or by echocardiography. Review showed another 17 patients with variable cardiac defects, mostly cl