Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism2014.04.22
Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that...
Oculocutaneous Albinism2014.04.22
A s residents, we can all relate to the eureka moment when a patient with a condition we have studied but have never seen in practice is standing in front of us. All of the memorized snippets, word associations, and Kodachrome images piece together. ...
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics2014.04.22
眼皮肤白化病中DNA的变异:突变列表和当前分子诊断中突出问题的一则更新
Oculocutaneous albinism (OCA)is a rare genetic disorder of melanin synthesis that results in hypopigmented hair,skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Herewe re...
眼皮肤白化病患者的TYR基因突变类型初步研究2014.04.22
目的:对临床诊断为眼皮肤白化病(OCA)患者的7豫基因进行突变筛查,以了解我国大陆0CA患者 TYR 基因突变类型。方法:应用PcR技术扩增患者及其父母的7豫基因外显子、外显子一内含子交界区及启动子区,以DNA序列测定技术进行突变筛查与鉴定。结果:在8名患者的16个TYR 等位...
眼自化病1型的遗传基础研究进展2014.04.22
眼白化病是一组眼部着色减少的遗传性疾病,常伴随着视力下降、斜视、眼球震颤等症状。目前将眼白化病分为X连锁隐性遗传的眼白化病1型( OA1)和常染色体隐性遗传的常染色体隐性 眼白化病型。
各型眼皮肤白化病遗传基因的相关研究2014.04.22
白化病是一种单基因隐性遗传性疾病。眼皮肤白化病可分为4型,临床表现主要是全身各部位色素缺乏,根据其色素缺乏部位及其他系统异常,可分为眼白化病、眼皮肤白化病及白化病相关综合征。白化病的发生与l2种基因的突变有关。本文对其临床表现及其对视力、皮肤、心理各方面...
Congenital Nasal Pyriform Aperture Stenosis and Ocular Albinism Co-Occurring in a Sibship with a Maternally-Inherited 97 kb Xp22.2 Microdeletion2014.04.22
先天性鼻梨状孔狭窄和眼部白化病共同发生在一对伴有97 kbXp22.2微缺失母系遗传的兄弟中
先天性鼻梨状孔狭窄(CNPAS)是由上颌骨过度生长而引起的一种罕见的先天性畸形。我们报道了两名患者,在出生时影像学诊断为CNPAS。这对兄弟在出生时还患有眼白化病,众所周知这是一种X-连锁遗传性疾病。随后,对兄妹和他们的母亲进行基因检测,证实在X染色体P臂上的97kb...
Oculocutaneous albinism (OCA) in Japanese patients: Five novel mutations2014.04.22
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by a reduction or deficiency of melanin in the eyes, skin, and hair . The lack of pigment in the skin results in severe photosensitivity and a high risk of skinca...
Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients2014.04.22
眼皮肤白化病3型(OCA3): 对两名中国患者TYRP1基因的两种新突变进行分析
Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, andhair. OCA exhibits geneticheterogeneity. Presently, there are four types of OCA named asOCA1, OCA2, OCA3, and OCA4. OCA3 is m...
Scattered blue maculae in a patient with albinism2014.04.21
A 75-year-old albino man presented with a 30-year history of round blue lesions on his forearm. The patient denied taking any medications and his medical history was not relevant. He was now retired but had worked previously as a silversmith.
Incidental Finding of Alpha-Methylacyl-CoA Racemase Deficiency in a Patient With Oculocutaneous Albinism Type 42014.04.21
Genome-wide studies may lead to the discovery of genetic variants of potential clinical importance beyond the aims of the study. We performed single nucleotide polymorphism array analysis in a boy with oculocutaneous albinism to identify copyneutral ...
Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia2014.04.21
We evaluated a 32-year-old woman whose oculocutaneous albinism (OCA), bleeding diathesis, neutropenia, and history of recurrent infections prompted consideration of the diagnosis of Hermansky–Pudlak syndrome type 2. This was ruled out because of the...
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