A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology

Authors :: Hazim Kadhim
Eliane El-Howayek
Sandra Coppens
Jennifer Duff
Ana Topf
Jean-Paul Kaleeta
Paolo Simoni
Grammatina Boitsios
Gauthier Remiche
Volker Straub
Catheline Vilain
Nicolas Deconinck
Source :: Neuromuscular Disorders. 33:410-416
Publication Year :: 2023
Publisher :: Elsevier BV, 2023.

Subjects :: Neurology
Pediatrics, Perinatology and Child Health
Neurology (clinical)
Genetics (clinical)

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