Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]
نویسندگان
چکیده
منابع مشابه
Molecular Genetic Investigation of Autosomal Recessive Neurodevelopmental Disorders
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...
متن کاملAutosomal recessive disorders among Arabs: an overview from Kuwait.
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...
متن کاملLow 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...
متن کاملGenetic Causes of Putative Autosomal Recessive Intellectual Disability Cases in Hamedan Province
Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID) in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamada...
متن کاملGenetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
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ژورنال
عنوان ژورنال: EBioMedicine
سال: 2020
ISSN: 2352-3964
DOI: 10.1016/j.ebiom.2020.103072