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Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome
Hashim M., Stewart H., Yu J., Banos‐Pinero B., Pagnamenta AT., Taylor JC.
DOI
10.1111/cge.14355
Type
Journal article
Journal
Clinical Genetics
Publisher
Wiley
Publication Date
09/2023
Volume
104
Pages
390 - 392