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Crisponi/CISS1 syndrome: A case series:

Alhashem, Amal M. ; Majeed–Saidan, Muhammad Ali ; Ammari, Amer N....
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1236-1241 , 2016
Link: https://doi.org/10.1002/ajmg.a.37569