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Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

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Title: Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Authors: Stoupa A; Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France., Franca MM; Department of Medicine, The University of Chicago, Chicago, IL., Abdulhadi-Atwan M; Pediatric Endocrinology Department, Palestine Red Crescent Society Hospital, Hebron branch, Bethlehem, Palestine., Fujisawa H; Department of Medicine, The University of Chicago, Chicago, IL; Department of Endocrinology and Metabolism, Fujita Health University, Toyoake, Japan., Korwutthikulrangsri M; Department of Medicine, The University of Chicago, Chicago, IL; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Marchand I; Pediatric Department, Hôpital Intercommunal de Créteil, Créteil, France., Polak G; Faculté de Médecine, Université Paris Cité, Paris, France., Beltrand J; Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France., Polak M; Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France; Centre de référence des maladies endocriniennes rares de la croissance et du développement, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Centre régional de dépistage néonatal (CRDN) Ile de France, Paris, France., Kariyawasam D; Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France., Liao XH; Department of Medicine, The University of Chicago, Chicago, IL., Raimondi C; Advocate Children's Hospital, IL., Steigerwald C; Department of Neurology, NYU Grossman School of Medicine, NY., Abreu NJ; Department of Neurology, NYU Grossman School of Medicine, NY., Bauer AJ; Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, PA., Carré A; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France., Taneja C; Division of Endocrinology, Diabetes and Metabolism, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY., Mekhoubad AB; Division of Pediatric Endocrinology, Northwell Health, Cohen Children's Medical Center, Lake Success, NY., Dumitrescu AM; Department of Medicine, The University of Chicago, Chicago, IL; Committee of Molecular Metabolism and Nutrition, The University of Chicago, Chicago, IL. Electronic address: alexd@uchicago.edu.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec; Vol. 26 (12), pp. 101280. Date of Electronic Publication: 2024 Sep 21.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Stoupa+A%22">Stoupa A</searchLink>; Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France.<br /><searchLink fieldCode="AU" term="%22Franca+MM%22">Franca MM</searchLink>; Department of Medicine, The University of Chicago, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Abdulhadi-Atwan+M%22">Abdulhadi-Atwan M</searchLink>; Pediatric Endocrinology Department, Palestine Red Crescent Society Hospital, Hebron branch, Bethlehem, Palestine.<br /><searchLink fieldCode="AU" term="%22Fujisawa+H%22">Fujisawa H</searchLink>; Department of Medicine, The University of Chicago, Chicago, IL; Department of Endocrinology and Metabolism, Fujita Health University, Toyoake, Japan.<br /><searchLink fieldCode="AU" term="%22Korwutthikulrangsri+M%22">Korwutthikulrangsri M</searchLink>; Department of Medicine, The University of Chicago, Chicago, IL; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Marchand+I%22">Marchand I</searchLink>; Pediatric Department, Hôpital Intercommunal de Créteil, Créteil, France.<br /><searchLink fieldCode="AU" term="%22Polak+G%22">Polak G</searchLink>; Faculté de Médecine, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Beltrand+J%22">Beltrand J</searchLink>; Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France.<br /><searchLink fieldCode="AU" term="%22Polak+M%22">Polak M</searchLink>; Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France; Centre de référence des maladies endocriniennes rares de la croissance et du développement, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Centre régional de dépistage néonatal (CRDN) Ile de France, Paris, France.<br /><searchLink fieldCode="AU" term="%22Kariyawasam+D%22">Kariyawasam D</searchLink>; Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France.<br /><searchLink fieldCode="AU" term="%22Liao+XH%22">Liao XH</searchLink>; Department of Medicine, The University of Chicago, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Raimondi+C%22">Raimondi C</searchLink>; Advocate Children's Hospital, IL.<br /><searchLink fieldCode="AU" term="%22Steigerwald+C%22">Steigerwald C</searchLink>; Department of Neurology, NYU Grossman School of Medicine, NY.<br /><searchLink fieldCode="AU" term="%22Abreu+NJ%22">Abreu NJ</searchLink>; Department of Neurology, NYU Grossman School of Medicine, NY.<br /><searchLink fieldCode="AU" term="%22Bauer+AJ%22">Bauer AJ</searchLink>; Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, PA.<br /><searchLink fieldCode="AU" term="%22Carré+A%22">Carré A</searchLink>; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France.<br /><searchLink fieldCode="AU" term="%22Taneja+C%22">Taneja C</searchLink>; Division of Endocrinology, Diabetes and Metabolism, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY.<br /><searchLink fieldCode="AU" term="%22Mekhoubad+AB%22">Mekhoubad AB</searchLink>; Division of Pediatric Endocrinology, Northwell Health, Cohen Children's Medical Center, Lake Success, NY.<br /><searchLink fieldCode="AU" term="%22Dumitrescu+AM%22">Dumitrescu AM</searchLink>; Department of Medicine, The University of Chicago, Chicago, IL; Committee of Molecular Metabolism and Nutrition, The University of Chicago, Chicago, IL. Electronic address: alexd@uchicago.edu.
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