| 概要 |
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, delayed motor development, ataxia, congenital sensorineural hearing impairment, and optic atrophy. Patients with Arts syndrome also have an impaired immune system due to impaired hematopoietic differentiation. The causative gene is PRPS1 on the X chromosome that is essential for de novo purine and pyrimidine synthesis.
|
|---|
| 著者 |
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H |
|---|
| 著者 |
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J |
|---|
