Article
Williams-Beuren syndrome in diverse populations.
American journal of medical genetics. Part A - 1 May 2018
Kruszka Paul, Porras Antonio R, de Souza Deise Helena, Moresco Angélica, Huckstadt Victoria, Gill Ashleigh D, Boyle Alec P, Hu Tommy, Addissie Yonit A, Mok Gary T K, Tekendo-Ngongang Cedrik, Fieggen Karen, Prijoles Eloise J, Tanpaiboon Pranoot, Honey Engela, Luk Ho-Ming, Lo Ivan F M, Thong Meow-Keong, Muthukumarasamy Premala, Jones Kelly L, Belhassan Khadija, Ouldim Karim, El Bouchikhi Ihssane, Bouguenouch Laila, Shukla Anju, Girisha Katta M, Sirisena Nirmala D, Dissanayake Vajira H W, Paththinige C Sampath, Mishra Rupesh, Kisling Monisha S, Ferreira Carlos R, de Herreros María Beatriz, Lee Ni-Chung, Jamuar Saumya S, Lai Angeline, Tan Ee Shien, Ying Lim Jiin, Wen-Min Cham Breana, Gupta Neerja, Lotz-Esquivel Stephanie, Badilla-Porras Ramsés, Hussen Dalia Farouk, El Ruby Mona O, Ashaat Engy A, Patil Siddaramappa J, Dowsett Leah, Eaton Alison, Innes A Micheil, Shotelersuk Vorasuk, Badoe Ëben, Wonkam Ambroise, Obregon María Gabriela, Chung Brian H Y, Trubnykova Milana, La Serna Jorge, Gallardo Jugo Bertha Elena, Chávez Pastor Miguel, Abarca Barriga Hugo Hernán, Megarbane Andre, Kozel Beth A, van Haelst Mieke M, Stevenson Roger E, Summar Marshall, Adeyemo A Adebowale, Morris Colleen A, Moretti-Ferreira Danilo, Linguraru Marius George, Muenke Maximilian
Abstract excerpt
Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals...
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