NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Author:

Douglas Jenny,Hanks Sandra,Temple I. Karen,Davies Sally,Murray Alexandra,Upadhyaya Meena,Tomkins Susan,Hughes Helen E.,Trevor Cole R.P.,Rahman Nazneen

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference31 articles.

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2. NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines;Angrand;Genomics,2001

3. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer;Charbonnier;Cancer Res,2002

4. The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts;Chesi;Blood,1998

5. Growing interest in overgrowth;Cole;Arch Dis Child,1998

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