X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene
Monique Jouet(University of Cambridge), Susan Kenwrick(University of Cambridge), Giles Armstrong(University of Cambridge), Roger E. Stevenson(Atrium Health Wake Forest Baptist), John R. MacFarlane(University of Cambridge), Victor Ionâşescu(University of Iowa Hospitals and Clinics), Joan Paterson, André Rosenthal, Aı̈da Metzenberg(Howard Hughes Medical Institute), I. Karen Temple(Princess Anne Hospital)
Cited by 420
Related Papers
<i>AGTR2</i> Mutations in X-Linked Mental Retardation
|Science|2002|719
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
|Nature Genetics|2008|591
Evaluation of mental retardation: Recommendations of a consensus conference
|American Journal of Medical Genetics|1997|403
Autism and maternally derived aberrations of chromosome 15q
|American Journal of Medical Genetics|1998|372
Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene
|The American Journal of Human Genetics|2005|369