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...
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Ohdo 综合征,Say-Barber-Biesecker-Young-Simpson 变异(SBBYSS)的英文名字是Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant(SBBYSS)。基因解码表明:佳学基因通过基因解码发现,Ohdo综合征,Say-Barber-Biesecker-Young-Simpson变异(SBBYSS)是由基因突变引起的。具体来说,这种综合征与KAT6B基因的突变相关...
Ohdo 综合征,Say-Barber-Biesecker-Young-Simpson 变异的英文名字是Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant。基因解码表明:Ohdo综合征是一种罕见的遗传性疾病,主要特征包括智力发育迟缓、面部特征异常、心脏缺陷和其他身体畸形。Say-Barber-Biesecke
目前已知其变异与两种极其罕见的智力低下综合征,即Say-Barber-Biesecker-Young-Simpson综合征(Say-Barber-Biesecker-Young-Simpson syndrome,SBBYSS) [ 2 ]和生殖器髌骨综合征(genitopatellar syndrome,GTPTS)相关 [ 3 ]。二者的发病率均小于1/1 000 000 [ 4 ]。截至2020年,全球报道的与 KAT6B基因变异相关...
Ohdo syndrome Say-Barver-Biesecker-Young-Simpson (SBBYS) variant is a rare autosomal dominant disorder characterized mainly by intellectual disability, developmental delays, contractures of the knees and hips contractures, thyroid dysfunction and dysmorphic appearance. The Ohdo syndrome SBBYS variant is...
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and hearing abnormalities. There has been little psychiatric or ...
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSSSay-Barber-Biesecker-Young-Simpson syndrome (SBBYSdoi:10.1111/cge.12840HikkelovaAlphamedicalM.AlphamedicalKadasiAlphamedicalL.AlphamedicalDurovcikovaAlphamedicalD.AlphamedicalRadvanszkyAlphamedical...
Figure 3 Family diagram of Say-Barber-Biesecker/Young-Simpson syndrome,the arrow indicate the proband 2 讨论 KAT6B基因(MIM#605880)定位于10q22.2区域,包含19个外显子,编码2 074个氨基酸。其编码的赖氨酸乙酰转移酶6B,包括一个含有转录抑制结构域的N-端及含有活性结构域的C-端 [ 3 ]。SBBYSS特点为...
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome[J] . Katalin Szakszon,Carmelo Salpietro,Naseebullah Kakar,Alida C. Knegt,éva Oláh,Bruno Dallapiccola,Guntram Borck.Am. J. Med. Genet. . 2013 (4)...