Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
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[1] N. Okamoto,et al. Patient with a novel purine‐rich element binding protein A mutation , 2017, Congenital anomalies.
[2] C. Zucca,et al. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA , 2015, Molecular Cytogenetics.
[3] Wendy K. Chung,et al. De novo mutations in PURA are associated with hypotonia and developmental delay , 2015, Cold Spring Harbor molecular case studies.
[4] Mahshid S. Azamian,et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. , 2014, American journal of human genetics.
[5] Diana Baralle,et al. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability , 2014, Journal of Medical Genetics.
[6] N. Brown,et al. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases , 2013, American journal of medical genetics. Part A.
[7] N. Niikawa,et al. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome , 2012, American journal of medical genetics. Part A.
[8] N. Okamoto,et al. Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination , 2012, Journal of Human Genetics.
[9] C. Le Caignec,et al. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination , 2011, American journal of medical genetics. Part A.
[10] M. Reijnders,et al. PURA-related neurodevelopmental disorders , 1993 .