Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

We have identified one frameshift mutation, one splice-site mutation, and two missense mutations in highly conserved residues in ZDHHC9 at Xq26.1 in 4 of 250 families with X-linked mental retardation (XLMR). In three of the families, the mental retardation phenotype is associated with a Marfanoid ha...

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Autors principals: Raymond, F. Lucy, Tarpey, Patrick S., Edkins, Sarah, Tofts, Calli, O’Meara, Sarah, Teague, Jon, Butler, Adam, Stevens, Claire, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Dicks, Ed, Gray, Kristian, Halliday, Kelly, Hills, Katy, Hinton, Jonathon, Jones, David, Menzies, Andrew, Perry, Janet, Raine, Keiran, Shepherd, Rebecca, Small, Alexandra, Varian, Jennifer, Widaa, Sara, Mallya, Uma, Moon, Jenny, Luo, Ying, Shaw, Marie, Boyle, Jackie, Kerr, Bronwyn, Turner, Gillian, Quarrell, Oliver, Cole, Trevor, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Futreal, P. Andrew
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2007
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852737/
https://ncbi.nlm.nih.gov/pubmed/17436253
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