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pubmed:abstractText |
Haploinsufficiency of the NSD1 gene leads to Sotos syndrome (Sos), which is characterised by excessive growth, especially during childhood, distinct craniofacial features and variable degree of mental impairment. A wide spectrum of NSD1 mutations have been described in Sos patients, ranging from more than 100 different single nucleotide changes, to partial gene deletions, and to microdeletions of various sizes comprising the entire NSD1 locus.
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pubmed:affiliation |
Department of Clinical Genetics, University Hospital Copenhagen, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. mdunoe@rh.dk
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