Article
22q11.2 deletion syndrome in diverse populations.
American journal of medical genetics. Part A - 1 Apr 2017
Kruszka Paul, Addissie Yonit A, McGinn Daniel E, Porras Antonio R, Biggs Elijah, Share Matthew, Crowley T Blaine, Chung Brian H Y, Mok Gary T K, Mak Christopher C Y, Muthukumarasamy Premala, Thong Meow-Keong, Sirisena Nirmala D, Dissanayake Vajira H W, Paththinige C Sampath, Prabodha L B Lahiru, Mishra Rupesh, Shotelersuk Vorasuk, Ekure Ekanem Nsikak, Sokunbi Ogochukwu Jidechukwu, Kalu Nnenna, Ferreira Carlos R, Duncan Jordann-Mishael, Patil Siddaramappa Jagdish, Jones Kelly L, Kaplan Julie D, Abdul-Rahman Omar A, Uwineza Annette, Mutesa Leon, Moresco Angélica, Obregon María Gabriela, Richieri-Costa Antonio, Gil-da-Silva-Lopes Vera L, Adeyemo Adebowale A, Summar Marshall, Zackai Elaine H, McDonald-McGinn Donna M, Linguraru Marius George, Muenke Maximilian
Abstract excerpt
22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images...
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