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Budny B, Badura‐Stronka M, Materna‐Kiryluk A, Tzschach A, Raynaud M, Latos‐Bielenska A, Ropers HH. Novel missense mutations in the ubiquitination‐related gene UBE2A cause a recognizable X‐linked mental retardation syndrome.
Recently, a truncating mutation of the UBE2A gene has been observed in a family with X‐linked mental retardation (XLMR) (1). The three affected males had similar phenotypes, including...
Badura‐Stronka M, Jamsheer A, Materna‐Kiryluk A, Sowińska A, Kiryluk K, Budny B, Latos‐Bieleńska A. A novel nonsense mutation in CUL4B gene in three brothers with X‐linked mental retardation syndrome.
Cabezas syndrome (MIM 300354) is a recently identified syndromic form of X‐linked mental retardation (XLMR) caused by mutations in the CUL4B gene. In total, nine XLMR families carrying mutations in the...
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