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A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years
Kindler Syndrome (KS) is one of the rarest subtypes of epidermolysis bullosa (EB). It is characterised by congenital blistering, skin fragility, photosensitivity, and poikilodermatous skin changes. It is an autosomal recessive condition with an established disease-causing mechanism of having biallelic pathogenic variants in the FERMT1 gene. Multiple variants have been reported worldwide since the discovery in 1954. This case report describes two patients of Chinese descent with molecularly confirmed KS, one diagnosed in infancy while the other in mid-adulthood. It highlights the importance and clinical utility of diagnosing KS in children versus adults. The identification of recurrent c.811C>T variant in both patients also expedited the review of local databases and the existing mutation spectrum KS in East Asians.
The Routledge Handbook of Language in the Workplace
The Routledge Handbook of Language in the Workplace provides a comprehensive survey of linguistic research on language in the workplace written by top scholars in the field from around the world. The Handbook covers theoretical and methodological approaches, explores research in different types of workplace settings, and examines some key areas of workplace talk that have been investigated by workplace researchers. Issues of identity have become a major focus in recent workplace research and the Handbook highlights some core issues of relevance in this area, such as gender, leadership, and intercultural communication. As the field has developed, applications of workplace research for both native and non-native speakers have emerged. Insights can inform and improve input from practitioners training workers in a range of fields and across a variety of contexts, and the Handbook foregrounds some of the ways workplace research can do this. This is an invaluable resource for researchers and graduate students interested in learning more about workplace discourse.
The Hong Kong Filmography, 1977-1997
Thanks to the successes of directors and actors like John Woo, Jackie Chan, and Chow Yun-Fat, the cinema of Hong Kong is wildly popular worldwide, and there is much more to this diverse film culture than most Western audiences realize. Beyond martial arts and comedy, Hong Kong films are a celebration of the grand diversity and pageantry of moviemaking--covering action, comedy, horror, eroticism, mythology, historical drama, modern romances, and experimental films. Information on 1,100 films produced in British Hong Kong from 1977 to 1997 is included here.
The Quest for Gold
This book is the first comprehensive record of sports in Hong Kong. It traces the practice of sport in Hong Kong dating back a century-and-a-half, when it was a pastime for foreign residents, and limited to a few clubs with access to grounds andpools.
