ATR-X综合征是英文ATR-X syndrome的中文翻译,这一疾病的全称是Alpha thalassemia X-linked intellectual disability syndrome。这是一种伴性隐性遗传基因病。患者呈现贫血征状,具有面部畸形。有明显的智力障碍。语言智商尤其低下。可以通过全面的天赋基因解码和致病基因鉴定基因解码找到病病因,避免后代或者二胎再次患病。基...
Wada, T., and Gibbons, R. J. (2003). ATR-‐X syndrome. In "Genetics and Genomics of Neurobehavioral Disorders". Fisch G. S., Ed., p 309-‐334. Humana Press, Totowa, NJ....
向上滑动阅览 [1]Wada T. X-linked alpha-thalassemia/mental retardation syndrome[J]. Rinsho Byori, 2009, 57(4): 382-390. [2]Timpano S, Picketts DJ. Neurodevelopmental disorders caused by defective chromatin remodeling: ...
Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed ...
We report the case of a 17-year-old boy who developed volvulus of the transverse colon; this patient has X-linked mental retardation with alpha-thalassemia (ATR-X syndrome), diagnosed when he was 3 years old. He was admitted to our hospital because of abdominal distention and vomiting. ...
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80:837.Gibbons RJ, Picketts, DJ, Villard L, Higgs DR (1995b): Mutations in a putative global transcriptional regulator cause X-linked mental retar- ...
A novel transcription regulatory complex containing Daxx and the ATR-X syndrome protein Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation...
The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report a typical clinical case. The clinical evidence leads us to continue the an...
ATR-X syndrome is caused by germline variants in theATRXgene. Until recently, the diagnosis of the ATR-X syndrome had been guided by the classical clinical manifestations and confirmed by molecular techniques. However, our new systematic analysisshows that the only clinical sign shared by all ...
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patientsCancer geneticsPaediatric cancerThe SWI/SNF complexes, initially identified in yeast 20 years ago, are a family of multi-subunit complexes that use the energy of adenosine ...