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Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients - Journal of Human Genetics

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Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients - Journal of Human Genetics

Facioscapulohumeral dystrophy type1 (FSHD1) patients with a shortened D4Z4 repeat containing the DUX4 gene have a broad spectrum of clinical manifestations. In addition, high expression of DUX4 protein with an aberrant C terminus is frequently identified in B cell acute lymphoblastic leukemia. We investigated clinical manifestations in 31 FSHD1 patients and 30 non-affected individuals.

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Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients - Journal of Human Genetics

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Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients - Journal of Human Genetics

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