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"X-linked" mental retardation 17
- ... JE, Carlin ME, Lubs HA. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet. 1984 Jan;17(1):311-22. doi: 10.1002/ajmg.1320170124. ...
- ... active, resulting in behavioral and psychiatric symptoms. Lubs X-linked mental retardation syndrome Trisomy Xq28 Genetic Testing Registry: Syndromic X- ...
- ... syndrome FXS Marker X syndrome Martin-Bell syndrome X-linked mental retardation and macroorchidism Genetic Testing Registry: Fragile X syndrome ...
- ... J. The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. Ann Hum Genet. 2000 ...
- ... 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( ...
- ... phosphoribosyltransferase deficiency Hypoxanthine phosphoribosyltransferase ... X-linked hyperuricemia X-linked primary hyperuricemia X-linked uric ...
- ... autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities.The X-linked form of cutis laxa is often called occipital ...
- ... P. beta-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May ...
- ... DE, Robertson E, Robinson BH. Mutations in the X-linked E1 alpha subunit of ... Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
- ... Art Review. J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j. ...