Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia-Reference-Cited by-同舟云学术

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

Published:2017-05-17 Issue:7 Volume:173 Page:1813-1820
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Khandelwal Kriti D.¹,Ockeloen Charlotte W.²,Venselaar Hanka³,Boulanger Cécile⁴,Brichard Bénédicte⁴,Sokal Etienne⁵,Pfundt Rolph²,Rinne Tuula²,van Beusekom Ellen²,Bloemen Marjon¹,Vriend Gerrit³,Revencu Nicole⁶,Carels Carine E. L.¹²,van Bokhoven Hans²⁷,Zhou Huiqing²⁸^ORCID

Affiliation:

1. Department of Orthodontics and Craniofacial Biology; Radboud university medical center; Nijmegen The Netherlands

2. Department of Human Genetics; Radboud university medical center; Nijmegen The Netherlands

3. Centre for Molecular and Biomolecular Informatics; Radboud university medical center; Nijmegen The Netherlands

4. Department of Pediatric Haematology and Oncology, Cliniques Universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

5. Université Catholique de Louvain, Cliniques Universitaires St Luc; Service de Gastroentérologie et Hépatologie Pédiatrique; Brussels Belgium

6. Centre for Human Genetics; Cliniques universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

7. Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour; Radboud university medical center; Nijmegen The Netherlands

8. Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences; Radboud University; Nijmegen The Netherlands

Funder

Radboud Universiteit

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38274/fullpdf

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5. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome;Cole;American Journal of Medical Genetics Part A,2009

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