Condition: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
rs1556235551
in
UBE2A
gene and
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
PMID 20412111
2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
PMID 16909393
2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.