Condition: Lubs X-linked mental retardation syndrome


rs61750241 in MECP2 gene and Lubs X-linked mental retardation syndrome PMID 10577905 1999 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 22497713 2012 Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.