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Familial sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. (Letter to JMG)

Authors :
Hoglund, P.
Kurotaki, N.
Kytola, S.
Miyake, N.
Somer, M.
Matsumoto, N.
Source :
Journal of Medical Genetics. January 2003, Vol. 40 Issue 1, p51, 4 p.
Publication Year :
2003

Abstract

Sotos syndrome (SS) or cerebral gigantism (OMIM *117550) is characterised by excessive growth, advanced bone age, typical facial gestalt, and developmental delay. (1,2) In infancy growth is rapid, but settles [...]

Details

Language :
English
ISSN :
00222593
Volume :
40
Issue :
1
Database :
Gale General OneFile
Journal :
Journal of Medical Genetics
Publication Type :
Periodical
Accession number :
edsgcl.97185333