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We describe a patient from the 100,000 Genomes Project with a complex de novo structural variant within KMT2E leading to O'Donnell-Luria-Rodan syndrome. This case expands the mutational spectrum for this… Click to show full abstract
We describe a patient from the 100,000 Genomes Project with a complex de novo structural variant within KMT2E leading to O'Donnell-Luria-Rodan syndrome. This case expands the mutational spectrum for this syndrome and highlights the importance of revisiting unsolved cases using better SV prioritisation tools and updated gene panels.
Keywords:
genome sequencing;
luria rodan;
rodan syndrome;
donnell luria;
structural variant
Journal Title: Clinical genetics
Year Published: 2023
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Journal Title: Clinical genetics
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!