1. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Iris Hollink, PhD 1 Majid Alfadhel, MD 2 Anwar Al-Wakeel, MD 2 Farough Ababneh 2 Rolph Pfundt, PhD 3 Stella A. de Man, MD 1, 4 Rami Abou Jamra, MD 5 Prof. Arndt Rolfs, MD 5, 6 Aida M. Bertoli-Avella, MD 5 Ingrid van de Laar, MD 1, 7
1 Erasmus Medical Center Rotterdam 2 King Saud bin Abdulaziz University for Health Sciences Riyadh 3 Radboud University Medical Centre Nijmegen 4 Amphia Hospital Breda 5 CENTOGENE AG 6 University of Rostock 7 Boston Children's Hospital
November 26, 2015