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

Authors :: Khandelwal, K.D.
Ockeloen, C.W.
Venselaar, H.
Boulanger, C.
Brichard, B.
Sokal, E.
Pfundt, R.
Rinne, T.
van Beusekom, E.
Bloemen, M.
Vriend, G.
Revencu, N.
Carels, C.E.L
van Bokhoven, H.
Zhou, H.
Khandelwal, K.D.
Ockeloen, C.W.
Venselaar, H.
Boulanger, C.
Brichard, B.
Sokal, E.
Pfundt, R.
Rinne, T.
van Beusekom, E.
Bloemen, M.
Vriend, G.
Revencu, N.
Carels, C.E.L
van Bokhoven, H.
Zhou, H.
Source :: American Journal of Medical Genetics. Part A; 1813; 1820; 1552-4825; 7; 173; ~American Journal of Medical Genetics. Part A~1813~1820~~~1552-4825~7~173~~
Publication Year :: 2017
Abstract: Contains fulltext : 177771.pdf (publisher's version ) (Closed access)

Database :: OAIster
Journal :: American Journal of Medical Genetics. Part A; 1813; 1820; 1552-4825; 7; 173; ~American Journal of Medical Genetics. Part A~1813~1820~~~1552-4825~7~173~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1247318437
Document Type :: Electronic Resource

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