PURA(Purine-rich-element-binding-protein-A)-Syndrom als seltene Ursache einer Entwicklungsstörung

Author:

Fazekas I.,Neuhann T.,Schweigerer L.

Publisher

Springer Science and Business Media LLC

Subject

Surgery,Pediatrics, Perinatology, and Child Health

Reference16 articles.

1. Ahmed MI et al (2016) A structured approach to the assessment of a floppy neonate. J Pediatr Neurosci 11(1):2–6

2. Brown N et al (2013) 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A 161A(10):2604–2608

3. Daniel DC, Johnson EM (2018) PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions. Gene 643:133–143

4. Marina DA et al (2014) Der hypotone Säugling („floppy infant“-Syndrom) – was hilft zur richtigen Diagnose? Kinder Jugendarzt 45(9):474–482

5. Genetic Home Reference, US National Library of Medicine: https://ghr.nlm.nih.gov/condition/pura-syndrome#synonyms. Zugegriffen: 25.02.2020

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