Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features
Hollink, Iris HIM, Alfadhel, Majid, Al-Wakeel, Anwar S, Ababneh, Farough, Pfundt, Rolph, de Man, Stella A, Jamra, Rami Abou, Rolfs, Arndt, Bertoli-Avella, Aida M, van de Laar, Ingrid MBHМова:
english
Журнал:
Journal of Human Genetics
DOI:
10.1038/jhg.2015.134
Date:
November, 2015
Файл:
PDF, 360 KB
english, 2015