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Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings
Falco, Mariateresa, Franzè, Annamaria, Iossa, Sandra, De Falco, Luigia, Gambale, Antonella, Marciano, Elio, Iolascon, AchilleVolume:
173
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38146
Date:
May, 2017
File:
PDF, 598 KB
english, 2017