The 2017 international classification of the Ehlers-Danlos syndromes-Reference-Cited by-同舟云学术

The 2017 international classification of the Ehlers-Danlos syndromes

Published:2017-03 Issue:1 Volume:175 Page:8-26
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Malfait Fransiska,Francomano Clair,Byers Peter,Belmont John,Berglund Britta,Black James,Bloom Lara,Bowen Jessica M.,Brady Angela F.,Burrows Nigel P.,Castori Marco,Cohen Helen,Colombi Marina,Demirdas Serwet,De Backer Julie,De Paepe Anne,Fournel-Gigleux Sylvie,Frank Michael,Ghali Neeti,Giunta Cecilia,Grahame Rodney,Hakim Alan,Jeunemaitre Xavier,Johnson Diana,Juul-Kristensen Birgit,Kapferer-Seebacher Ines,Kazkaz Hanadi,Kosho Tomoki,Lavallee Mark E.,Levy Howard,Mendoza-Londono Roberto,Pepin Melanie,Pope F. Michael,Reinstein Eyal,Robert Leema,Rohrbach Marianne,Sanders Lynn,Sobey Glenda J.,Van Damme Tim,Vandersteen Anthony,van Mourik Caroline,Voermans Nicol,Wheeldon Nigel,Zschocke Johannes,Tinkle Brad

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.c.31552/fullpdf

Reference32 articles.

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2. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss;Baumann;Am J Hum Genet,2012

3. International nosology of heritable disorders of connective tissue, Berlin, 1986;Beighton;Am J Med Genet,1988

4. Ehlers-Danlos syndromes: Revised nosology, villefranche, 1997. ehlers-Danlos national foundation (USA) and ehlers-Danlos support group (UK);Beighton;Am J Med Genet,1998

5. Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type;Camerota;Clin Rheumatol,2014

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