Detailed phenotyping and next-generation sequencing for characterization of rare overgrowth syndromes
Weaver syndrome (WS) is a rare overgrowth disorder characterized by tall stature, macrocephaly, advanced bone age, facial dysmorphism, intellectual disability and cancer susceptibility, and it is caused by constitutional mutations in the enhancer of zeste homolog 2 gene (EZH2). To expand our underst...
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| Language: | English |
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University of British Columbia
2017
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| Online Access: | http://hdl.handle.net/2429/60430 |