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

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