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Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing
Silvia Beatriz Sanchez Marco, Pardington, Emily, Monaghan, Marie, Spaull, Robert, Fadilah, Ala, Kurian, Kathreena, Vijayakumar, Kayal, Smithson, Sarah, Majumdar, Anirban
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Suspected Ovotesticular Disorders of Sexual Differentiation in a Phenotypic Male With Ambiguous Genitalia, Light Menstrual Flow, and Synchronous Bilateral Dysgerminoma: A Case Report From Ethiopia
Siferih, Melkamu, Negasa, Tesfaye, Yifru, Muluken, Sisay, Adane, Tadele, Genetu, Adem, Tajudin, Gebrie, Mikias, Taye, Worku
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Mometasone Furoate–Induced Iatrogenic Cushing’s Syndrome and Secondary Adrenal Insufficiency: A Case Report
Insalaco, Anna, Vandelli, Sara, Madeo, Simona F., Bruzzi, Patrizia, Trevisani, Viola, Predieri, Barbara, Lucaccioni, Laura, Iughetti, Lorenzo
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Landau–Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation
Ebrahim, Ayman Khalil, Makhlooq, Jaafar Jawad, Busehail, Maryam Yusuf
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
A Benign Renal Tumor With Serious Consequences: A Case Report of Juxtaglomerular Cell Tumor and Chronic Renal Disease in a Teenager
Courtney, Rachael, Dahlinghaus, Erin, Omoloja, Abiodun, Boyd, Jeffrey T., Smith, Michelle, Biederman, Laura, Ndengabaganizi, Israel, Robie, Daniel Keith, Al Dughiem, Ahmad
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Massively Enlarged Wandering Spleen With Torsion and Infarction in a 10‐Year‐Old: Case Report and Comprehensive Literature Review
Sawaftah, Zaid, Sawafta, Omar, Rajha, Humam Emad, Hassouneh, Ammar, Tawfiq Anati, Mosaikah D., Hussein, Abdallah H., Abuayash, Ahmad M., Taha, Haya Tariq, Rajab, Islam
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Pediatric Gastrointestinal Disorders in Multisystem Inflammatory Syndrome in Children (MIS‐C) Associated With COVID‐19: A Case Series
di Toma, Michele, Cassitti, Ilaria, Ciccone, Benedetta, Manca, Enrica, Marinari, Alessandra, Patisso, Isabella, Nobili, Maria, Campanozzi, Angelo
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature
Degroot, Gaetan-Nagim, Empain, Aurélie, Dedeken, Laurence, Demulder, Anne, Rozen, Laurence
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Successful Treatment of Bladder Fungus Ball Due to Candida auris With Systemic/Local Amphotericin B and Surgical Excision
Erkol Yilmaz, Yağmur, Havan, Merve, Eyduran, Eda, Penezoğlu, Nilay, Öcal, Duygu, Teber, Serap, Çiftçi, Ergin, Soygür, Yakup Tarkan, Kendirli, Tanıl
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Clinical Presentation and Outcome of Five Neonates With Enterovirus Central Nervous System Infection: Contrasting One Kawasaki‐Like Case With Cardiac Involvement and Seizures With Four Benign Cases
Peternell, Alina, Schödl, Christopher, Odri Komazec, Irena, Baumann, Matthias, Lechner, Christian
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Terra Firma–Forme Dermatosis: Clinical Insights, Dermoscopic and Ultraviolet‐Induced Fluorescence Dermoscopy Findings—A Case Report and Literature Review
Łabędź, Nina, Sobolewska-Sztychny, Dorota, Sadowska, Magdalena, Kubikowska, Klaudia, Korecka, Katarzyna, Narbutt, Joanna, Lesiak, Aleksandra
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Anesthesia Management in a Crisponi Syndrome Patient Undergoing Tracheotomy Surgery
Celik, Enes, Ipek, Yusuf, Kursun, Osman Oguzhan, Talay, Mehmet Nur, Akelma, Hakan
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article
Long-Term Consequences of Misdiagnosis of Parathyroid Adenomas in Pediatric Patients
Roztoczyńska, Dorota, Konturek, Aleksander, Wędrychowicz, Anna, Ossowska, Magdalena, Kapusta, Alicja, Taczanowska-Niemczuk, Anna, Starzyk, Jerzy B
Published in Case reports in pediatrics (01.01.2025)
Published in Case reports in pediatrics (01.01.2025)
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Journal Article