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Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

Archive ouverte | Vanlerberghe, Clemence | CCSD

International audience. PurposePredicting effects of genomic variants has become a real challenge in the diagnosis of rare human diseases. Holt-Oram syndrome is an autosomal condition characterized by the associatio...

Holt-oram syndrome: clinical and molecular description of 78 patients with tbx5 variants

Archive ouverte | Vanlerberghe, Clemence | CCSD

International audience. Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to T...

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Archive ouverte | Ghoumid, Jamal | CCSD

International audience

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