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Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.

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Title: Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.
Authors: Musa SA; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan.; Department of Paediatrics and Child Health Faculty of Medicine, Al-Neelain University, Khartoum 11121, Sudan., Abdullah MA; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan.; Department of Paediatrics, Faculty of Medicine, University of Khartoum, Khartoum 11115, Sudan., Hassan SS; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan., Fauzi LS; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Babiker OO; Sudan Childhood Diabetes Center, Khartoum 11111, Sudan.; Department of Paediatrics, Faculty of Medicine and Health Sciences, Omdurman Islamic University, Omdurman 14415, Sudan., Ahmed AI; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan.; Department of Paediatrics, Faculty of Medicine, University of Khartoum, Khartoum 11115, Sudan., Mohammedali M; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Hutchison C; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Mohamadsalih G; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Doha 26999, Qatar., Hall CL; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Maitra S; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Ibrahim AA; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan., Qamar Y; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Maharaj AV; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Marroquin Ramirez LM; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Read J; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Chan LF; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Metherell LA; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom., Smith CJ; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.
Source: European journal of endocrinology [Eur J Endocrinol] 2025 Mar 03; Vol. 192 (3), pp. 277-289.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.
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  Data: <searchLink fieldCode="AU" term="%22Musa+SA%22">Musa SA</searchLink>; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan.; Department of Paediatrics and Child Health Faculty of Medicine, Al-Neelain University, Khartoum 11121, Sudan.<br /><searchLink fieldCode="AU" term="%22Abdullah+MA%22">Abdullah MA</searchLink>; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan.; Department of Paediatrics, Faculty of Medicine, University of Khartoum, Khartoum 11115, Sudan.<br /><searchLink fieldCode="AU" term="%22Hassan+SS%22">Hassan SS</searchLink>; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan.<br /><searchLink fieldCode="AU" term="%22Fauzi+LS%22">Fauzi LS</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Babiker+OO%22">Babiker OO</searchLink>; Sudan Childhood Diabetes Center, Khartoum 11111, Sudan.; Department of Paediatrics, Faculty of Medicine and Health Sciences, Omdurman Islamic University, Omdurman 14415, Sudan.<br /><searchLink fieldCode="AU" term="%22Ahmed+AI%22">Ahmed AI</searchLink>; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan.; Department of Paediatrics, Faculty of Medicine, University of Khartoum, Khartoum 11115, Sudan.<br /><searchLink fieldCode="AU" term="%22Mohammedali+M%22">Mohammedali M</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hutchison+C%22">Hutchison C</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mohamadsalih+G%22">Mohamadsalih G</searchLink>; Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Doha 26999, Qatar.<br /><searchLink fieldCode="AU" term="%22Hall+CL%22">Hall CL</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Maitra+S%22">Maitra S</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ibrahim+AA%22">Ibrahim AA</searchLink>; Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital, Khartoum 11114, Sudan.<br /><searchLink fieldCode="AU" term="%22Qamar+Y%22">Qamar Y</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Maharaj+AV%22">Maharaj AV</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Marroquin+Ramirez+LM%22">Marroquin Ramirez LM</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Read+J%22">Read J</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chan+LF%22">Chan LF</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Metherell+LA%22">Metherell LA</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Smith+CJ%22">Smith CJ</searchLink>; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%229423848%22">European journal of endocrinology</searchLink> [Eur J Endocrinol] 2025 Mar 03; Vol. 192 (3), pp. 277-289.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9423848 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-683X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208044643%22">08044643 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Endocrinol <i>Subsets: </i>MEDLINE
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