Identification of a de novo variant in CHUK...

American Journal of Medical Genetics Part A 2017 / 05

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia

Khandelwal, Kriti D., Ockeloen, Charlotte W., Venselaar, Hanka, Boulanger, Cécile, Brichard, Bénédicte, Sokal, Etienne, Pfundt, Rolph, Rinne, Tuula, van Beusekom, Ellen, Bloemen, Marjon, Vriend, Gerri
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Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38274
Date:
May, 2017
File:
PDF, 642 KB
english, 2017
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