Skip to main content

01.12.2014 | Letter to the Editor | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

Clinical phenotypes of MAGEL2 mutations and deletions

Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Karin Buiting, Nataliya Di Donato, Jasmin Beygo, Susanne Bens, Maja von der Hagen, Karl Hackmann, Bernhard Horsthemke
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-40) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare no competing interests.

Authors’ contributions

KB and BH supervised this project. KB and JB planned the experiments and analyzed data. MvdH carried out the clinical evaluation and the clinical diagnostic workup. ND performed dysmorphological evaluation, genetic counseling, collected samples and initiated genetic testing. KH performed and analyzed CGH array analysis. SB performed and analyzed custom array analysis. BH wrote the manuscript. All authors reviewed and approved the final version of the manuscript.

Without Abstract

Über diesen Artikel

Weitere Artikel der Ausgabe 1/2014

Orphanet Journal of Rare Diseases 1/2014 Zur Ausgabe