Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

Author:

Lee John Y.W.,Hsu Chao-Kai,Michael Magdalene,Nanda Arti,Liu Lu,McMillan James R.,Pourreyron Celine,Takeichi Takuya,Tolar Jakub,Reid Evan,Hayday Thomas,Blumen Sergiu C.,Abu-Mouch Saif,Straussberg Rachel,Basel-Vanagaite Lina,Barhum Yael,Zouabi Yasmin,Al-Ajmi Hejab,Huang Hsin-Yu,Lin Ting-Chien,Akiyama Masashi,Lee Julia Y.Y.,McLean W.H. Irwin,Simpson Michael A.,Parsons Maddy,McGrath John A.

Funder

Wellcome Trust Strategic Award

MRC

UK National Institute for Health Research

UK Medical Research Council Project

Action Research

Jean Shanks Foundation

British Association of Dermatologists

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing;Hensiek;J. Neurol.,2015

2. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome;Abdallat;J. Neurol. Neurosurg. Psychiatry,1980

3. Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs;Lison;Am. J. Med. Genet.,1981

4. Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome;Mukamel;Am. J. Dis. Child.,1985

5. Vitiligo-spasticity syndrome: new case;Bamforth;Clin. Dysmorphol.,2003

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