DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP ...
Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate ...
7 AP-HP, Referral Center for Rare Buccal and Facial Dysmorphologies CRMR MAFACE, Hôpital Rothschild, Paris, France Methods Six FHHNC Brazilian patients were subjected to mutational analysis. Three ...
1 Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands 2 Research Unit of the Department of Plastic and ...
Correspondence to Dr Volker M Lauschke, Department of Physiology and Pharmacology, Section of Pharmacogenetics, Karolinska Institutet, Stockholm, SE-171, Sweden; volker.lauschke{at}ki.se Background ...
Correspondence to Dr Philippe Debeer, Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; philippe.debeer{at}uzleuven.be Methods and results Five unique, ...
Correspondence to Dr Pei-Lan Zhang, Department of Neurology, Tianjin Huanhu Hospital, Jinnanqu, Tianjin 300350, P.R. China; peilanzhng{at}sina.com and Dr Pedro Fernandez-Funez, Department of ...
Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...
Background Lowe syndrome (LS) is an X linked disease caused by pathogenic variants in the OCRL gene that impacts approximately 1 in 500 000 children. Classic features include congenital cataract, ...
8 McGill University and Centre of Genomics and Policy, Montréal, Québec, Canada 9 Centre de Recherche du Centre Hospitalier Universitaire Sainte-Justine and Departments of Pediatrics and Neurosciences ...
Correspondence to Dr Ludger Schöls, Clinical Neurogenetics, Department of Neurology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, D 72076 Tübingen, ...
Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual ...
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