Williams-Beuren syndrome in diverse populations.

@article{Kruszka2018WilliamsBeurenSI,
  title={Williams-Beuren syndrome in diverse populations.},
  author={Paul S Kruszka and Antonio R. Porras and Deise Helena de Souza and Ang{\'e}lica Moresco and Victoria Huckstadt and Ashleigh D Gill and Alec Boyle and Tommy Hu and Yonit A. Addissie and Gary Tsz Kin Mok and Cedrik Tekendo-Ngongang and Karen J Fieggen and Eloise J Prijoles and Pranoot Tanpaiboon and Engela Magdalena Honey and Ho Ming Luk and Ivan Fai‐Man Lo and Meow Keong Thong and Premala AP Muthukumarasamy and Kelly L Jones and Khadija Belhassan and Karim Ouldim and Ihssane El Bouchikhi and Laila Bouguenouch and Anju Shukla and Katta Mohan Girisha and Nirmala Dushyanthi Sirisena and V H W Dissanayake and C S Paththinige and R Mishra and Monisha S Kisling and Carlos R Ferreira and Mar{\'i}a Beatriz de Herreros and Nala Huiying Lee and Saumya Shekhar Jamuar and Angeline Hwei Meeng Lai and Ee Shien Tan and Jiin Ying Lim and Cham Breana Wen-Min and Neerja Gupta and Stephanie Lotz-Esquivel and Rams{\'e}s Badilla-Porras and Dalia Farouk Hussen and Mona O El Ruby and Engy A. Ashaat and Siddaramappa Jagdish Patil and Leah Dowsett and Alison Eaton and A Micheil Innes and Vorasuk Shotelersuk and {\"E}ben Badoe and Ambroise Wonkam and Mar{\'i}a Gabriela Obreg{\'o}n and Brian Hon-Yin Chung and Milana Trubnykova and Jorge La Serna and Bertha Elena Gallardo Jugo and Miguel A Ch{\'a}vez Pastor and Hugo Hern{\'a}n Abarca Barriga and Andr{\'e} M{\'e}garban{\'e} and Beth A Kozel and Mieke M van Haelst and Roger E Stevenson and Marshall Summar and Adebowale A Adeyemo and Colleen A. Morris and Danilo Moretti-Ferreira and Marius George Linguraru and Maximilian Muenke},
  journal={American journal of medical genetics. Part A},
  year={2018},
  volume={176 5},
  pages={
          1128-1136
        }
}
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 with WBS were found in 19 countries with an average age of 11 years and female gender… CONTINUE READING
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