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MIRAGE syndrome, a multisystem disorder, results from heterozygous gain-of-function mutations in SAMD9, which encodes a growth suppressor, located on chromosome 7. Somatic changes involving loss-of-function mutations of the altered SAMD9… Click to show full abstract
MIRAGE syndrome, a multisystem disorder, results from heterozygous gain-of-function mutations in SAMD9, which encodes a growth suppressor, located on chromosome 7. Somatic changes involving loss-of-function mutations of the altered SAMD9 allele or loss of chromosome 7 act as phenotypic modifiers, providing a typical example of somatic mutation and selection process.
Keywords:
somatic mutation;
mutation selection;
mirage syndrome;
phenotypic
Journal Title: Trends in molecular medicine
Year Published: 2019
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Journal Title: Trends in molecular medicine
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!