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Neuraxial dysraphism in <i>EPAS1-</i>associated syndrome due to improper mesenchymal transition.
Neurol Genet
6
2020
14T, Chiari malformations, Dandy-, EPAS1, EPAS1 gain-of-function syndrome, EPAS1-associated syndrome, Endothelial Per-Arnt-Sim (PAS) domain protein 1, HIF-2, Microfil, Neuraxial dysraphism, Patients, Walker, abnormal, cerebellar tonsil displacement, cervical myelomeningocele, circulating leukocytes, hypoxia-inducible factor-2, mesenchymal, mouse, neuraxial dysraphism, paragangliomas, patients, pheochromocytoma, polycythemia, posterior fossa malformations, somatostatinoma, spinal dysraphism, spinal malformations, syringomyelia, tumor, tumors
Author NameAffiliation
Markku MiettinenNational Institutes of Health (J.S.R., National Cancer Institute Neuro-Oncology Branch National Institutes of Health (D.P.A., National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch National Institutes of Health (Y.P., Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Medical Neuroendocrinology Georgetown Hospital (M.A.N.), Washington DC National Institutes of Health (J.P.M., MD George Washington University (J.G.S.), MedPix(r) National Institutes of Health (M.M.M.), Center for Cancer Research, National Cancer Institute, Laboratory of Pathology and National Institutes of Health (R.H.K., National Heart Lung and Blood Institute
Markku MiettinenNational Institutes of Health (J.S.R., National Cancer Institute Neuro-Oncology Branch National Institutes of Health (D.P.A., National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch National Institutes of Health (Y.P., Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Medical Neuroendocrinology Georgetown Hospital (M.A.N.), Washington DC National Institutes of Health (J.P.M., MD George Washington University (J.G.S.), MedPix(r) National Institutes of Health (M.M.M.), Center for Cancer Research, National Cancer Institute, Laboratory of Pathology and National Institutes of Health (R.H.K., National Heart Lung and Blood Institute
Zhengping ZhuangNational Institutes of Health (J.S.R., National Cancer Institute Neuro-Oncology Branch National Institutes of Health (D.P.A., National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch National Institutes of Health (Y.P., Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Medical Neuroendocrinology Georgetown Hospital (M.A.N.), Washington DC National Institutes of Health (J.P.M., MD George Washington University (J.G.S.), MedPix(r) National Institutes of Health (M.M.M.), Center for Cancer Research, National Cancer Institute, Laboratory of Pathology and National Institutes of Health (R.H.K., National Heart Lung and Blood Institute
Karel PacakNational Institutes of Health (J.S.R., National Cancer Institute Neuro-Oncology Branch National Institutes of Health (D.P.A., National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch National Institutes of Health (Y.P., Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Medical Neuroendocrinology Georgetown Hospital (M.A.N.), Washington DC National Institutes of Health (J.P.M., MD George Washington University (J.G.S.), MedPix(r) National Institutes of Health (M.M.M.), Center for Cancer Research, National Cancer Institute, Laboratory of Pathology and National Institutes of Health (R.H.K., National Heart Lung and Blood Institute
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