Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3
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DOI: 10.1002/mgg3.1314
Abstract: Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare. Clinical features and genetic characteristics of them were seldom studied. read more here.
Keywords: ataxia type; spinocerebellar ataxia; clinical features; genetic characteristics ... See more keywords
Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities
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DOI: 10.1007/s11596-018-1879-0
Abstract: SummaryAlagille syndrome (AGS) is a multisystem disorder and caused by mutations in JAG1 or NOTCH2 gene. The diagnosis of AGS is hampered by its highly variable clinical manifestations. We performed a retrospective analysis on 16… read more here.
Keywords: clinical features; analysis; analysis pediatric; features genetic ... See more keywords
Clinicopathologic Features and Genetic Alterations in Adenocarcinoma In Situ and Minimally Invasive Adenocarcinoma of the Lung: Long-Term Follow-Up Study of 121 Asian Patients
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DOI: 10.1245/s10434-020-08241-y
Abstract: Background Adenocarcinoma in situ (AIS) and minimally invasive adenocarcinoma (MIA) are both small tumors with good prognosis after surgical resection, and most of them present as ground glass opacities (GGOs) on computed tomography (CT) screening.… read more here.
Keywords: mia; genetic alterations; adenocarcinoma situ; features genetic ... See more keywords
Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
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DOI: 10.3390/genes13071197
Abstract: Autosomal recessive bestrophinopathy (ARB) is a rare subtype of bestrophinopathy caused by biallelic mutations of the BEST1 gene. ARB is characterized by multifocal subretinal deposits accompanied by macular edema or subretinal fluid, hyperopia, co-existing narrow… read more here.
Keywords: features genetic; recessive bestrophinopathy; fluid; bestrophinopathy ... See more keywords