22q11.2 deletion syndrome in diverse populations.

P, Kruszka; YA, Addissie; DE, McGinn; AR, Porras; E, Biggs; M, Share; TB, Crowley; BH, Chung; GT, Mok; CC, Mak; P, Muthukumarasamy; MK, Thong; ND, Sirisena; VH, Dissanayake; CS, Paththinige; LB, Prabodha; R, Mishra; V, Shotelersuk; EN, Ekure; OJ, Sokunbi; N, Kalu; CR, Ferreira; JM, Duncan; SJ, Patil; KL, Jones; JD, Kaplan; OA, Abdul-Rahman; A, Uwineza; L, Mutesa; A, Moresco; MG, Obregon; A, Richieri-Costa; VL, Gil-da-Silva-Lopes; AA, Adeyemo; M, Summar; EH, Zackai; DM, McDonald-McGinn; MG, Linguraru; M, Muenke

doi:10.1002/ajmg.a.38199

Public

22q11.2 deletion syndrome in diverse populations.

Shared by NobleBlocks on Apr 1, 2017 • 12:00 AM UTC

Authors:

Kruszka P

Addissie YA

McGinn DE

Abstract

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...

Subject

Velocardiofacial Syndrome

Digeorge Syndrome

22q11.2 Deletion Syndrome

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