A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy - Paulina

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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

scientific article published on 15 December 2016

Author/s

author: Anna Castells-Nobau, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Martijn A Huynen, Syed Ali Raza Kazmi, Chiea Chuen Khor, Annette Schenck, Hannie Kremer, Saima Siddiqi, Radek Szklarczyk, Margit Schraders, Jaap Oostrik, Bart Petrus Christoffel van de Warrenburg

Work details

Publication date

December 15, 2016

Language

English

Copyright status

copyrighted