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Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

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Title: Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Authors: Martínez de LaPiscina I; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Hernández-Ramírez LC; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Portillo N; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Pediatric Endocrinology Service, Alto Deba Hospital, Arrasate, Spain., Gómez-Gila AL; Pediatric Endocrinology Service, Virgen del Rocío University Hospital, Sevilla, Spain., Urrutia I; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Martínez-Salazar R; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., García-Castaño A; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Aguayo A; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Rica I; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Pediatric Endocrinology Service, Cruces University Hospital, Barakaldo, Spain., Gaztambide S; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Endocrinology Service, Cruces University Hospital, Barakaldo, Spain., Faucz FR; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Keil MF; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Lodish MB; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.; Division of Pediatric Endocrinology, Department of Pediatrics, Mission Hall, University of California, San Francisco, San Francisco, CA, United States., Quezado M; Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, United States., Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United States., Chittiboina P; Neurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States., Lane J; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United States., Kay DM; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, United States., Mills JL; Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Castaño L; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Jul 03; Vol. 11, pp. 433. Date of Electronic Publication: 2020 Jul 03 (Print Publication: 2020).
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
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  Data: <searchLink fieldCode="AU" term="%22Martínez+de+LaPiscina+I%22">Martínez de LaPiscina I</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Hernández-Ramírez+LC%22">Hernández-Ramírez LC</searchLink>; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Portillo+N%22">Portillo N</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Pediatric Endocrinology Service, Alto Deba Hospital, Arrasate, Spain.<br /><searchLink fieldCode="AU" term="%22Gómez-Gila+AL%22">Gómez-Gila AL</searchLink>; Pediatric Endocrinology Service, Virgen del Rocío University Hospital, Sevilla, Spain.<br /><searchLink fieldCode="AU" term="%22Urrutia+I%22">Urrutia I</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Salazar+R%22">Martínez-Salazar R</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22García-Castaño+A%22">García-Castaño A</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Aguayo+A%22">Aguayo A</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Rica+I%22">Rica I</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Pediatric Endocrinology Service, Cruces University Hospital, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Gaztambide+S%22">Gaztambide S</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Endocrinology Service, Cruces University Hospital, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Faucz+FR%22">Faucz FR</searchLink>; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Keil+MF%22">Keil MF</searchLink>; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Lodish+MB%22">Lodish MB</searchLink>; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.; Division of Pediatric Endocrinology, Department of Pediatrics, Mission Hall, University of California, San Francisco, San Francisco, CA, United States.<br /><searchLink fieldCode="AU" term="%22Quezado+M%22">Quezado M</searchLink>; Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Pankratz+N%22">Pankratz N</searchLink>; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United States.<br /><searchLink fieldCode="AU" term="%22Chittiboina+P%22">Chittiboina P</searchLink>; Neurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Lane+J%22">Lane J</searchLink>; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United States.<br /><searchLink fieldCode="AU" term="%22Kay+DM%22">Kay DM</searchLink>; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, United States.<br /><searchLink fieldCode="AU" term="%22Mills+JL%22">Mills JL</searchLink>; Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Castaño+L%22">Castaño L</searchLink>; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Stratakis+CA%22">Stratakis CA</searchLink>; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
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  Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2020 Jul 03; Vol. 11, pp. 433. <i>Date of Electronic Publication: </i>2020 Jul 03 (<i>Print Publication: </i>2020).
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