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.