Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome-Reference-Cited by-同舟云学术

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Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome

Published:2019-01-22 Issue:11 Volume:28 Page:1853-1864
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Syx Delfien¹^ORCID,De Wandele Inge¹,Symoens Sofie¹,De Rycke Riet²³,Hougrand Olivier⁴,Voermans Nicol⁵,De Paepe Anne¹,Malfait Fransiska¹

Affiliation:

1. Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium

2. Department of Biomedical Molecular Biology and Expertise Centre for Transmission Electron Microscopy, Ghent University, Ghent, Belgium

3. Center for Inflammation Research and BioImaging Core, VIB, Ghent, Belgium

4. Unit of Electron Microscopy, Department of Pathology, Unilab LG, University Hospital, Liège, Belgium

5. Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, HB Nijmegen, The Netherlands

Funder

Ghent University

Research Foundation Flanders

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/28/11/1853/28658976/ddz024.pdf

Reference19 articles.

1. The 2017 international classification of the Ehlers–Danlos syndromes;Malfait;Am. J. Med. Genet. C Semin. Med. Genet.,2017

2. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue;Alazami;Hum. Genet.,2016

3. Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers–Danlos syndrome;Blackburn;Am. J. Hum. Genet.,2018

4. Impaired abdominal wall development and deficient wound healing in mice lacking aortic carboxypeptidase-like protein;Layne;Mol. Cell. Biol.,2001

5. Aortic carboxypeptidase-like protein is expressed in collagen-rich tissues during mouse embryonic development;Ith;Gene Expr. Patterns,2005

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