Barber-Say综合症是英文Barber-Say syndrome的中文翻译。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止Barber-Say综合症在后代或者二胎中的出现。根据《人的基因序列变化与人体疾病表征》,该病属于皮肤-毛发-指甲疾病。
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in ...
Barber-Say syndrome: further delineation of the clinical spectrum We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of... FM Cortés,LA Troncoso,AR Alliende,... - 《Genetics & Molecular Bi...
Barber–Say syndrome; autosomal dominant inheritance; phenotypic expression; surgical treatment Abstract We report on a father to daughter transmission of Barber–Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose...
Barber Say Syndrome (BSS) is a rare autosomal dominant disease, classified as an ectodermal dysplasia, affecting the eyelids and skin as well as exhibiting dysmorphic facial features. BSS exhibits variable phenotypes. Molecular analysis of patients with BSS identified mutations in the TWIST2 gene, ...
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 型的英文名称是Blepharophimosis-intellectual deficit syndrome,Say-Barber/Biesecker/Young-Simpson type。Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type是一种罕见的遗传性疾病,主要特征包括眼睑狭窄(blepharophimosis)、...
眼睑裂和智力低下综合征Say-Barber/Biesecker/Young-Simpson 型的英文名字是Blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type。基因解码表明:眼睑裂和智力低下综合征Say-Barber/Biesecker/Young-Simpson型是一种罕见的遗传疾病,其发生与基因突变有关。 该综合征与FOXL2基因...
Barber-Saysyndrome,Macrostomia,Cutislaxa,GeneralanesthesiaBackgroundBarber-Saysyndrome(BSS)ischaracterizedbyuniquecon-genitalmalformations,includingmacrostomia,redundantskin,andotherfeatures[1].Itisaveryraresyndrome,andonlyseveraldozencaseshavebeenreportedthusfar,nopreviousreportonthegeneralanesthesiaofapatientwithBSS...
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...