Congenital cataracts, the most common cause of visual impairment and blindness in
children worldwide, have diverse etiologies. According to statistics analysis, about one …

Quality control of human induced pluripotent stem cells (iPSCs) is critical to ensure
reproducibility of research. Recently, KOLF2. 1J was characterized and published as a male …

Cockayne syndrome is a rare condition that encompasses a very wide spectrum of clinical
severity. Mutations upstream of a transposon called PiggyBac Transposable Element …

Представлены клинико-генетическое описание и анализ случая редкого аутосомно-
рецессивного нейродегенеративного заболевания с накоплением железа в мозге, тип …

Cockayne Syndrome - StatPearls - NCBI Bookshelf US flag An official website of the United
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …

Rare diseases occur with a frequency≤ 1: 1500–1: 2500 depending on the location and
applicable definitions across countries. Although individually rare, they collectively affect as …

Abstract Vision 2020: The Right to Sight has identified the control of congenital cataract and
blindness in children as a priority in its global initiative to reduce the burden of avoidable …

Background Cockayne syndrome (CS) is a rare autosomal recessive disorder which
displays multiorgan dysfunction, especially within the nervous system including …

A 14-month-old boy born to consanguineous parents presented to our Dermatology
Department with a 6-month history of a malar eczematous rash that worsens with sun …

Cockayne sendromu (CS) seyrek görülen, klinik bulguları büyüme ve gelişme geriliği,
mikrosefali, sensörinöral işitme kaybı, katarakt/retinopati, dental anomaliler, güneş ışığına …