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Watts, Christopher R.; Awan, Shaheen N.; Marler, Jeffrey A. – Clinical Linguistics & Phonetics, 2008
The human elastin gene (ELN) is responsible for the generation of elastic fibres in the extracellular matrix of connective tissue throughout the body, including the vocal folds. Individuals with Supravalvular aortic stenosis (SVAS) and Williams syndrome (WS) lack one normal ELN allele due to heterozygous ELN abnormalities, resulting in a…
Descriptors: Biomechanics, Acoustics, Genetics, Cytology