Orphanet Journal of Rare Diseases

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

RESEARCH

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt and Alma Kuechler

Orphanet Journal of Rare Diseases 2020, 15:242 | Published on: 9 September 2020

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RESEARCH

Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function

Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen and Bo-Feng Zhu

Orphanet Journal of Rare Diseases 2020, 15:240 | Published on: 9 September 2020

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RESEARCH

Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study

Solenne Le Louet, Mohamed-Aziz Barkaoui, Jean Miron, Claire Galambrun, Nathalie Aladjidi, Pascal Chastagner, Kamila Kebaili, Corinne Armari-Alla, Anne Lambilliotte, Julien Lejeune, Despina Moshous, Valeria Della Valle, Chiara Sileo, Hubert Ducou Le Pointe, Jean-François Chateil, Sylvain Renolleau…

Orphanet Journal of Rare Diseases 2020, 15:241 | Published on: 9 September 2020

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