The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

Author:

Brooks Simon P.,Coccia Margherita,Tang Hao R.,Kanuga Naheed,Machesky Laura M.,Bailly Maryse,Cheetham Michael E.,Hardcastle Alison J.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference45 articles.

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2. X-linked cataract and Hutchinsonian teeth;Horan;Aust. Paediatr.,1974

3. Mental retardation in Nance–Horan syndrome: clinical and neuropsychological assessment in four families;Toutain;Am. J. Med. Genet.,1997

4. X-linked cataract and Nance–Horan syndrome are allelic disorders;Coccia;Hum. Mol. Genet.,2009

5. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance–Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation;Burdon;Am. J. Hum. Genet.,2003

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