Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical ...
1 Department of Pediatric Radiology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France 2 Department of Genetic ...
Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of ...
Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...
Background Hypertrophic cardiomyopathy (HCM) is frequently fatal in infancy. Mitochondrial disease causing infantile HCM is characterised by extreme biochemical and genetic heterogeneity, but ...
Correspondence to Dr Rando Allikmets, Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute Research Annex, 635 West 165th Street, Box # 28, New York, NY 10032, USA; rla22 ...
1 Institute of Genomic and Personalized Medicine, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China 2 Wuhan Women and Children Hospital, Wuhan, ...
Original research: National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy (28 November, 2024) ...
Background Targeted cystic fibrosis (CF) carrier screening panels may lack sensitivity in non-European ancestry groups. This study aims to evaluate the sensitivity of various panels in Australian CF ...
Introduction Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal ...
tsRNA is a class of non-coding RNAs derived from mature or precursor tRNAs. In recent years, more and more studies have explored the correlation between tsRNAs and tumours. tsRNAs can affect the ...
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