Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals w...
Say-Barber-Biesecker Syndrome (SBBS) rarechromo.org Unique lists other organisations’ message boards and websites in order to be helpful to families looking for information and support. This does not imply that we endorse their content or have any responsibility for it. This guide is not ...
睑裂-智力缺陷综合征,Say-Barber/Biesecker/Young-Simpson 型的英文名字是Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type。基因解码表明:睑裂-智力缺陷综合征,Say-Barber/Biesecker/Young-Simpson 型是一种罕见的遗传性疾病,主要特征包括眼睑裂缩、智力缺陷和其他身体畸形。
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, bleph... EF Association - Empire Forestry Association, 被引量: 47发表: 1946年 De novo mutations of the gene encoding the histone acetyltransferase ...
Say-Barber/Biesecker/Young-Simpson型综合征:这是与Blepharophimosis-intellectual deficit syndrome有重叠症状的一种罕见遗传性综合征。它包括眼睛的畸形(如眼裂狭窄、眼睑下垂)、智力缺陷、面部特征异常等。 2. 基因突变相关的智力缺陷:一些其他遗传性疾病也可能导致智力缺陷,例如Down综合征、自闭症、Fragile X综合征...
De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment Author links open overlay panelD.M. Fernández-Mayoralas a, B. Calleja-Pérez b, S. Álvarez c, A. Fernández-Jaén a dShow more Add to Mendeley Share Cite...
Say-Barber/Biesecker/Young-Simpson型综合征:这是与Blepharophimosis and mental retardation syndrome相似的一种遗传性疾病,特征包括眼睑狭窄、智力发育迟缓和面部特征异常。 2. 眼睑狭窄-智力发育迟缓综合征:这是一组疾病,包括Blepharophimosis and mental retardation syndrome在内,特征为眼睑狭窄和智力发育迟缓。 3....
Szakszon K, Berenyi E, Jakab A, Bessenyei B, Balogh E, Kobling T, et al. Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young- Simpson type - new findings with neuroimaging. Am J Med Genet A 2011;155A:634-7.
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSSSay-Barber-Biesecker-Young-Simpson syndrome (SBBYSdoi:10.1111/cge.12840HikkelovaAlphamedicalM.AlphamedicalKadasiAlphamedicalL.AlphamedicalDurovcikovaAlphamedicalD.AlphamedicalRadvanszkyAlphamedical...
Niida, Y. et al. A Say-Barber-Young-Simpson valiant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: a recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. Congenit. Anom. 57, 86-88 (2017)....