Reply: IsSIGMAR1a confirmed FTD/MND gene?

Reply: Is SIGMAR1 a confirmed FTD/MND gene?

1 Neurodegenerative Studies Laboratory, Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland 2 Department of Medical Genetics, University of Lausanne, CH-1005 Lausanne, Switzerland 3 Institute of Neuropathology, Uniklinik-RWTH Aachen University, 52074 Aachen, Germany 4 Department of Neuroscience and Department of Clinical Neuroscience, Karolinska ...

PTPN22: a confirmed rheumatoid arthritis susceptibility gene?

The Authors’ Reply

The Authors’ Reply

Barber‐say syndrome: a confirmed case of TWIST2 gene mutation

Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.