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Nablus syndrome: Easy to diagnose yet difficult to solve:

Allanson, Judith ; Smith, Amanda ; Forzano, Francesca...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  178 (2018)  4 - p. 447-457 , 2018
Link: https://doi.org/10.1002/ajmg.c.31660