Expanding the neurodevelopmental phenotype of PURA syndrome

Lee, BH; Reijnders, MRF; Abubakare, O; Tuttle, E; Lape, B; Minks, KQ; Stodgell, C; Bennetto, L; Kwon, J; Fong, CT; Gripp, KW; Marsh, ED; Smith, WE; Huq, AM; Coury, SA; Tan, WH; Solis, O; Mehta, RI; Leventer, RJ; Baralle, D; Hunt, D; Paciorkowski, AR

Paciorkowski, AR (reprint author), Univ Rochester, Med Ctr, Child Neurol, 601 Elmwood Ave, Rochester, NY 14642 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018; 176 (1): 56

Abstract

PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental dela......

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