Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna et al. · The American Journal of Human Genetics · 2010 · 238 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Kathryn P. Burdon, James McKay, Michèle M. Sale et al. · The American Journal of Human Genetics · 2003 · 140 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes

Hilde Van Esch, Anna Jansen, Marijke Bauters et al. · American Journal of Medical Genetics Part A · 2007 · 69 citations

Medicine, Genetics, Molecular Genetics +12

X-linked cataract and Nance-Horan syndrome are allelic disorders

Margherita Coccia, Simon P. Brooks, Tom R. Webb et al. · Human Molecular Genetics · 2009 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of the gene for Nance-Horan syndrome (NHS)

Simon P. Brooks · Journal of Medical Genetics · 2004 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15