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Allan–Herndon–Dudley syndrome with unusual profound sensori..:

Gagliardi, Lucia ; Nataren, Nathalie ; Feng, Jinghua...
American Journal of Medical Genetics Part A.  167 (2015)  8 - p. 1872-1876 , 2015
Link: https://doi.org/10.1002/ajmg.a.37075