PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

MRF, Reijnders; R, Janowski; M, Alvi; JE, Self; Essen TJ, van; M, Vreeburg; RPW, Rouhl; SJC, Stevens; APA, Stegmann; J, Schieving; R, Pfundt; Dijk K, van; E, Smeets; CTRM, Stumpel; LA, Bok; JM, Cobben; M, Engelen; S, Mansour; M, Whiteford; KE, Chandler; S, Douzgou; NS, Cooper; EC, Tan; R, Foo; AHM, Lai; J, Rankin; A, Green; T, Lönnqvist; P, Isohanni; S, Williams; I, Ruhoy; KS, Carvalho; JJ, Dowling; DL, Lev; K, Sterbova; P, Lassuthova; J, Neupauerová; JL, Waugh; S, Keros; J, Clayton-Smith; SF, Smithson; HG, Brunner; Hoeckel C, van; M, Anderson; VE, Clowes; VM, Siu; Study T, Ddd; P, Selber; RJ, Leventer; C, Nellaker; D, Niessing; D, Hunt; D, Baralle

doi:10.1136/jmedgenet-2017-104946

Public

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Shared by NobleBlocks on Nov 2, 2017 • 12:00 AM UTC

Authors:

Reijnders MRF

Janowski R

Alvi M

Abstract

<h4>Background</h4>De novo mutations in <i>PURA</i> have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.<h4>Objectives</h4>To delineate the clinical spectrum of ...

Subject

Intellectual Disability

Hypotonia

Epilepsy And Seizures

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