Background Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the ...

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 ...

Erika Frangione, Radhika Mahajan, Juan De Los Rios, Selina Casalino, Navneet Aujla, Saranya Arnoldo, Alexandra Binnie, Bjug Borgundvaag, Marc Dagher, Luke Devine, Hanna Faghfoury, Steven Marc Friedman ...

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 ...

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 ...

Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy characterised by progressive skeletal and cardiac muscle degeneration, loss of ambulation, respiratory failure and premature mortality.

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, ...

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, ...

Background Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the ...

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 ...