Condition: Juberg-Marsidi syndrome
rs122445101 in
ATRX gene and
Juberg-Marsidi syndrome
PMID 15565397 2005 A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
PMID 16222662 2005 Asplenia in ATR-X syndrome: a second report.
PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.
PMID 8630485 1996 XNP mutation in a large family with Juberg-Marsidi syndrome.
PMID 10751095 2000 Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
PMID 10632111 2000 A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.