Background Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon ...
Background MECOM encodes a developmental and haematopoietic transcription factor associated with a rare early-onset syndrome including bone marrow failure, skeletal and other congenital anomalies.
The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to ...
1 Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, Quebec, Canada 2 Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, ...
Correspondence to Professor Wenhao Zhou, Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China; zhouwenhao{at}fudan.edu.cn Background Congenital anomalies are the ...
4 Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK 5 Research School for Cardiovascular Diseases in ...
Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos ...
Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi ...
3 Division of Neonatology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA 4 Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, ...
Correspondence to Professor Miikka Vikkula, Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels 1348, Belgium; miikka.vikkula{at}uclouvain.be Background Oral clefts, that is, ...
Correspondence to Dr Rosanna Weksberg, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada; rweksb{at}sickkids.ca and Dr Brian Hon-Yin Chung, Department of ...
Background Rett syndrome is a complex genetic disorder with age-specific manifestations and over half of the patients surviving into middle age. However, little information about the phenotype of ...