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

Celia Zazo Seco, Anna Castells-Nobau, Seol Hee Joo, Margit Schraders, Jia Nee Foo, Monique Van Der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik De Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjarg, Erwin Van Wijk, Jolanda M. Scheffer-De Gooyert, Saadat Siddique, Jonathan BaetsPeter De Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. Van De Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer*, Saima Siddiqi

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Fingerprint

Dive into the research topics of 'A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology