Latest Article Alert from Orphanet Journal of Rare Diseases

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

For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Research  

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva J, Letexier M, Souied E, Mohand-Saïd S, Sahel J, Zeitz C, Audo I

Orphanet Journal of Rare Diseases 2015, 10 :85 (24 June 2015)

Abstract | Provisional PDF

Research  

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Stange K, Désir J, Kakar N, Mueller T, Budde B, Gordon C, Horn D, Seemann P, Borck G

Orphanet Journal of Rare Diseases 2015, 10 :84 (24 June 2015)

Abstract | Provisional PDF

Research  

Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study

Edwards N, Moody W, Yuan M, Warfield A, Cramb R, Paisey R, Geberhiwot T, Steeds R

Orphanet Journal of Rare Diseases 2015, 10 :83 (24 June 2015)

Abstract | Provisional PDF

Review  

How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration

Furlong P, Bridges J, Charnas L, Fallon J, Fischer R, Flanigan K, Franson T, Gulati N, McDonald C, Peay H, Sweeney H

Orphanet Journal of Rare Diseases 2015, 10 :82 (24 June 2015)

Abstract | Provisional PDF