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De novo mutations contribute significantly to severe early‐onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending… Click to show full abstract
De novo mutations contribute significantly to severe early‐onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred.
Keywords:
recurrence risk;
novel approach;
recurrence;
mosaicism;
approach using
Journal Title: Prenatal Diagnosis
Year Published: 2017
Link to full text (if available)
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Journal Title: Prenatal Diagnosis
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!