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Results 1 - 10 of 22 for Mental "retardation," "X-linked" 1
  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. ...
  2. ... 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. ...
  3. ... 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( ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... 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 ...
  9. ... 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 ...
  10. ... 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. ...
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