Orphanet Journal of Rare Diseases

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  

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel T, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M

Orphanet Journal of Rare Diseases 2015, 10 :52 (2 May 2015)

Abstract | Provisional PDF

Review  

Rhabdomyolysis: a genetic perspective

Scalco R, Gardiner AR, Pitceathly R, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R

Orphanet Journal of Rare Diseases 2015, 10 :51 (2 May 2015)

Abstract | Provisional PDF