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Paper Details

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Neuropediatrics
10
2018
Asp106Asn, BNIPL gene, Leu172Pro, Microcephaly, PRUNE1, PRUNE1 Deficiency, PRUNE1 deficiency, PRUNE1 gene, PRUNE1 mutations, Peripheral neuropathy, Primary microcephaly, T2-hyperintense brain stem lesions, bilateral spastic paresis, cerebral and cerebellar atrophies, children, developmental disabilities, dysphagia, global developmental delay, microcephaly, neurologic symptoms, patients
Author NameAffiliation
Tim M StromInstitute of Human Genetics, Technische Universitat Munchen
Tim M StromInstitute of Human Genetics
Peter Freisinger
Charu DeshpandeGuy's Hospital
Thomas MeitingerInstitute of Human Genetics, Technische Universitat Munchen
Thomas MeitingerInstitute of Human Genetics
Thomas MeitingerInstitute of Human Genetics, Technische Universitat Munchen
Thomas MeitingerInstitute of Human Genetics
Ren?? G FeichtingerSalzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU)
Johannes A MayrSalzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU)
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