Marfan syndrome in a paediatric cohort: the importance of family history.
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DOI: 10.1017/s1047951123000422
Abstract: Marfan syndrome is a rare connective tissue disorder secondary to mutations in the FBN1 gene, characterised by skeletal, ocular, and cardiovascular manifestations. We present an extensive cohort of paediatric patients with Marfan syndrome highlighting the… read more here.
Keywords: marfan syndrome; importance; paediatric cohort; syndrome paediatric ... See more keywords
Molecular characterization of respiratory syncytial viruses circulating in a paediatric cohort in Amman, Jordan.
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DOI: 10.1099/mgen.0.000292
Abstract: Respiratory syncytial viruses (RSVs) are an important cause of mortality worldwide and a major cause of respiratory tract infections in children, driving development of vaccine candidates. However, there are large gaps in our knowledge of… read more here.
Keywords: syncytial viruses; respiratory syncytial; rsva rsvb; cohort amman ... See more keywords
Changes to the upper gastrointestinal microbiotas of children with reflux oesophagitis and oesophageal metaplasia
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DOI: 10.1099/mgen.0.000870
Abstract: Little is known of the relationships among paediatric upper gastrointestinal microbiotas, and the impact of medication use and disease on their diversity. Here, we investigated the diversity of three microbiotas in the upper gastrointestinal tract… read more here.
Keywords: upper gastrointestinal; oral oesophageal; oesophageal metaplasia; paediatric cohort ... See more keywords
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
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DOI: 10.1530/eje-21-0897
Abstract: Objective The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). Design We characterised an international multi-centre paediatric cohort of patients with HNF4A or… read more here.
Keywords: hnf4a hnf1a; clinical genetic; hnf1a mutations; paediatric cohort ... See more keywords