Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing
Introduction: Noonan Syndrome (NS) is an autosomal dominant multisystem disorder, characterised by short stature, distinctive facial dysmorphism, cardiovascular abnormalities and developmental delay. Its estimated incidence is 1:1000 to 1:2500 live births. NS is caused by germline mutations in more...
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| Format: | Dissertation |
| Language: | English |
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University of Cape Town
2018
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| Online Access: | http://hdl.handle.net/11427/27376 |