Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders

Author:

Choi Sun Ah,Lee Heun-Sik,Park Tae-Joon,Park Soojin,Ko Young Jun,Kim Soo Yeon,Lim Byung Chan,Kim Ki Joong,Chae Jong-Hee

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Reijnders MRF, Leventer RJ, Lee BH, Baralle D, Selber P, Paciorkowski AR, et al. PURA-Related Neurodevelopmental Disorders. 2017. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.

2. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination;Shimojima;Am J Med Genet A,2011

3. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome;Hosoki;Am J Med Genet A,2012

4. 5q31.3 microdeletion syndrome: clinical and molecular characterization of two further cases;Brown;Am J Med Genet A,2013

5. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability;Hunt;J Med Genet,2014

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