Article
Expanding the neurodevelopmental phenotype of PURA syndrome.
American journal of medical genetics. Part A - 1 Jan 2018
Lee Bo Hoon, Reijnders Margot R F, Abubakare Oluwatobi, Tuttle Emily, Lape Brynn, Minks Kelly Q, Stodgell Christopher, Bennetto Loisa, Kwon Jennifer, Fong Chin-To, Gripp Karen W, Marsh Eric D, Smith Wendy E, Huq Ahm M, Coury Stephanie A, Tan Wen-Hann, Solis Orestes, Mehta Rupal I, Leventer Richard J, Baralle Diana, Hunt David, Paciorkowski Alex R
Abstract excerpt
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was...
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