Consanguinity and autosomal recessive neuromuscular disorders
نویسندگان
چکیده
منابع مشابه
Low segregation ratios in autosomal recessive disorders.
ing from Murcia, Spain. She was born in 1987, without meconium ileus, and was diagnosed as having cystic fibrosis at the age of 5 months, on the basis of growth retardation, gastrointestinal problems (especially diarrhoea and steatorrhoea), and repeated bronchitis. Staphylococcus aureus then Pseudomonas aeruginosa have been found in the patient's sputum since she was 6 months old. She is treate...
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Development of the human brain occurs in a number of complex preand postnatal stages which are governed by both genetic and environmental factors. Aberrant brain development due to inherited defects may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular b...
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Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of gene...
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A sibship of a brother and sister with congenital bilateral pseudoglioma is described. The most prominent abnormality was a greyish-white vascularised mass in the retrolental spaces, which was noted as early as the first weeks of life. Corneal opacities, posterior synechiae, and complicated cataracts developed within 1 to 2 years age. The sibship showed normal chromosomes and had no systemic di...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2016
ISSN: 0012-1622
DOI: 10.1111/dmcn.13112