A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes

Funding was from Associacio Sindrome Opitz C, Terrassa, Spain; Spanish Ministerio de Economia y Competitividad (SAF2014-56562-R; FECYT, crowdfunding PRECIPITA); Catalan Government (2014SGR932) and from CIBERER (U720). We acknowledge support of the Spanish Ministry of Economy and Competitiveness, 'Centro de Excelencia Severo Ochoa 2013-2017'.