Condition: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED


rs1057518708 in ATRX gene and ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED PMID 9326931 1997 Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 21421568 2011 The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

PMID 7697714 1995 Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

PMID 9043863 1996 A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 16955409 2006 ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

PMID 8968741 1996 ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

PMID 10204841 1999 Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

PMID 10660327 1998 New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

PMID 10995512 2000 Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

PMID 14990586 2004 A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.

PMID 16955409 2006 Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX.

PMID 21505078 2011 Functional significance of mutations in the Snf2 domain of ATRX.