Publications:

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.

Bmc Medical Genetics

Gaillard, Marie-Cécile MC; Puppo, Francesca F; Roche, Stéphane S; Dion, Camille C; Campana, Emmanuelle Salort ES; Mariot, Virginie V; Chaix, Charlene C; Vovan, Catherine C; Mazaleyrat, Killian K; Tasmadjian, Armand A; Bernard, Rafaelle R; Dumonceaux, Julie J; Attarian, Shahram S; Lévy, Nicolas N; Nguyen, Karine K; Magdinier, Frédérique F; Bartoli, Marc M

Publication Date: 2016-09-15

Variant appearance in text: TTN: 8168A>C; Asp2723Ala

PubMed Link: 27634379

Variant Present in the following documents:

• Main text
• 12881_2016_Article_328.pdf

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