Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Author:

Kapferer-Seebacher Ines,Pepin Melanie,Werner Roland,Aitman Timothy J.,Nordgren Ann,Stoiber Heribert,Thielens Nicole,Gaboriaud Christine,Amberger Albert,Schossig Anna,Gruber Robert,Giunta Cecilia,Bamshad Michael,Björck Erik,Chen Christina,Chitayat David,Dorschner Michael,Schmitt-Egenolf Marcus,Hale Christopher J.,Hanna David,Hennies Hans Christian,Heiss-Kisielewsky Irene,Lindstrand Anna,Lundberg Pernilla,Mitchell Anna L.,Nickerson Deborah A.,Reinstein Eyal,Rohrbach Marianne,Romani Nikolaus,Schmuth Matthias,Silver Rachel,Taylan Fulya,Vandersteen Anthony,Vandrovcova Jana,Weerakkody Ruwan,Yang Margaret,Pope F. Michael,Byers Peter H.,Zschocke Johannes,Aleck Kirk,Banki Zoltan,Dudas Joszef,Dumfahrt Herbert,Haririan Hady,Hartsfield James K.,Kagen Charles N.,Lindert Uschi,Meitinger Thomas,Posch Wilfried,Pritz Christian,Ross David,Schroer Richard J.,Wick Georg,Wildin Robert,Wilflingseder Doris

Funder

Oesterreichische Nationalbank

Propter Homines Foundation

FWF

SNF

UK MRC Clinical Sciences Centre

Wellcome Clinical Training Fellowship

Freudmann Fund for Translational Research in Ehlers Danlos syndrome, the Ehlers Danlos Research Fund, and the Center for Precision Diagnostics at the University of Washington

National Heart, Lung, and Blood Institute

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. The genetics of soft connective tissue disorders;Vanakker;Annu. Rev. Genomics Hum. Genet.,2015

2. A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis;Stewart;Birth Defects Orig. Artic. Ser.,1977

3. Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features;Reinstein;Eur. J. Hum. Genet.,2013

4. Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13;Rahman;Am. J. Hum. Genet.,2003

5. Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree;Reinstein;Am. J. Med. Genet. A.,2011

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