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X-linked mental retardation

 

Etiology

-  germline FMR1 mutations
-  germline SLC6A8 mutations

References

-  Ropers HH, Hoeltzenbein M, Kalscheuer V, Yntema H, Hamel B, Fryns JP, Chelly J, Partington M, Gecz J, Moraine C. Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet. 2003 Jun;19(6):316-20. PMID: #12801724#

-  Chelly J. Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation. Hum Mol Genet. 1999;8(10):1833-8. PMID: #10469834#


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