Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

POSITION STATEMENT

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel…

Orphanet Journal of Rare Diseases 2019, 14:264 | Published on: 21 November 2019

Full Text | PDF

REVIEW

Biliary tract large cell neuroendocrine carcinoma: current evidence

Riva Raiker, Aman Chauhan, Hassan Hasanein, Grant Burkeen, Millicent Horn, Janeesh Veedu, Cory Vela, Susanne Arnold, Jill Kolesar, Lowell Anthony, B. Mark Evers and Michael Cavnar

Orphanet Journal of Rare Diseases 2019, 14:266 | Published on: 21 November 2019

Full Text | PDF

CORRECTION

Correction to: Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton…

Orphanet Journal of Rare Diseases 2019, 14:267 | Published on: 21 November 2019

Full Text | PDF

RESEARCH

Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Niu Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, Yiping Shen, Lei Yin, Xiumin Wang and Jian Wang

Orphanet Journal of Rare Diseases 2019, 14:265 | Published on: 21 November 2019

Full Text | PDF

RESEARCH

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno and Raúl Estévez

Orphanet Journal of Rare Diseases 2019, 14:268 | Published on: 21 November 2019

Full Text | PDF

RESEARCH

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Ilaria Baldelli, Fabio Gallo, Marco Crimi, Piero Fregatti, Lorenzo Mellini, Pierluigi Santi and Rosagemma Ciliberti

Orphanet Journal of Rare Diseases 2019, 14:269 | Published on: 21 November 2019

Full Text | PDF

Follow BMC on:

For further information or enquiries please use our contact page details.

BMC respects your privacy and does not disclose, sell or rent your personal information to any non-affliated third parties with your consent. Privacy policy.

BioMed Central Ltd
The Campus, 4 Crinan Street,
London, N1 9XW,
United Kingdom