The 2017 international classification of the Ehlers–Danlos syndromes

@article{Malfait2017The2I,
  title={The 2017 international classification of the Ehlers–Danlos syndromes},
  author={Fransiska Malfait and Clair A Francomano and Peter H Byers and John W. Belmont and Britta Berglund and James Black and Lara Bloom and Jessica M. Bowen and Angela F. Brady and Nigel P. Burrows and Marco Castori and Helen Cohen and Marina Colombi and Serwet Demirdas and Julie De Backer and Anne De Paepe and Sylvie Fournel‐Gigleux and Michael Frank and Neeti Ghali and Cecilia Giunta and Rodney Grahame and Alan J Hakim and Xavier Jeunema{\^i}tre and Diana S. Johnson and Birgit Juul-Kristensen and Ines Kapferer-Seebacher and Hanadi Kazkaz and Tomoki Kosho and Mark E. Lavallee and Howard P. Levy and Roberto Mendoza-Londono and Melanie G Pepin and F. Michael Pope and E Reinstein and Leema Robert and Marianne Rohrbach and Lynn S Sanders and Glenda J. Sobey and Tim Van Damme and Anthony Vandersteen and Caroline van Mourik and Nicol C. Voermans and Nigel M. Wheeldon and Johannes Zschocke and Brad T Tinkle},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  year={2017},
  volume={175},
  pages={26 - 8}
}
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen‐encoding genes, or in genes encoding collagen‐modifying… 

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...

References

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TLDR
This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.

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TLDR
This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.

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TLDR
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TLDR
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TLDR
Unbiased NGS-based sequencing made new molecular diagnoses outside the expected EDS genotype–phenotype relationship and identified previously undetected clinically actionable variants in aortopathy susceptibility genes.

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TLDR
The data indicate that the mRNA for lysyl hydroxylase produced in the affected cells is about 4 kb in size, whereas it is 3.2 kb in the control cells, and an apparently homozygous duplication rearrangement of nucleotides 1176 to 1955, corresponding to amino acids 326 to 585 in the normal sequence.

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TLDR
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TLDR
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