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Mental "retardation," "X-linked" 1
- ... x. Citation on PubMed Gibbons R. Alpha thalassaemia-mental retardation, X linked. Orphanet J Rare Dis. 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. ...
- ... Boyle J, Gecz J. Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. Clin Genet. 2004 Jul;66(1):39-45. doi: 10.1111/j.0009-9163. ...
- ... Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet. 2006 Jul;119( ...
- ... truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum ...
- ... the X chromosome, this condition is known as X-linked intellectual disability. Researchers ... HU-2 HU-3 Insulin-stimulated protein kinase 1 ISPK-1 KS6A3_HUMAN MAP kinase-activated protein ...
- ... RE, Pegg AE. Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). Methods Mol Biol. 2011;720:437-45. doi: 10.1007/978-1-61779-034-8_28. Citation on PubMed Zhang ...
- ... changes result in the signs and symptoms of X-linked intellectual disability. 71-7A CXorf5 JBTS10 MGC117039 MGC117040 OFD1_HUMAN oral-facial-digital syndrome 1 SGBS2 Tests of OFD1 PubMed OFD1 CENTRIOLE AND ...
- ... of other genes normally regulated by the HCF-1 protein. More About This Health Condition Variants in the HCFC1 gene have also been found in individuals with X-linked intellectual disability. These individuals have delayed development and other neurological ...
- ... Wilson-Turner syndrome, which is a form of X-linked intellectual disability. However, researchers speculate that it may actually be part of the same ... of HDAC8 PubMed HISTONE ...
- ... mutation has also been found to cause an X-linked retinal disorder in a large ... in the alpha-1 subunit, which appears to overactivate CaV1.4 channels. ...