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Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant

Aiyar, Lilaa; Stumbaugh, Tammyb; Hirata, Greigh I.b; Chen, Bruceb; Lau, Helen L.c; Wallerstein, Robert J.d

doi: 10.1097/MCD.0000000000000266
Short Case Reports
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aDepartment of Health, Hawai'i Community Genetics, Kapi‘olani Medical Center for Women and Children

bFetal Diagnostic Institute of the Pacific

cKapi‘olani Medical Center for Women and Children

dHawai'i Community Genetics, Kapi‘olani Medical Center for Women and Children, Honolulu, HI, USA

Received 2 February 2018 Accepted 20 February 2019

Correspondence to Lila Aiyar, MSc, CGC, CCGC. Hawai'i Community Genetics and Hawai'i Department of Health, 741 Sunset Ave, Honolulu, HI, 96816, Tel: 808 733 8387; fax: 808 733 9068; e-mail: lila@hawaiigenetics.org

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