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Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.

Megane DelourmeChaix CharleneLaurene GerardBenjamin GannePierre PerrinCatherine VovanKarine BertauxKarine NguyenRafaëlle BernardFrédérique Magdinier
Published in: Neurology. Genetics (2023)
This work further highlights the complexity of the 4q and 10q subtelomeric regions and the need of in-depth analyses in a significant number of cases. This work also highlights the complexity of the 4q35 region and interpretation issues with consequences on the molecular diagnosis of patients or genetic counseling.
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