Beckwith-Wiedemann syndrome with asymmetric mosaic of paternal disomy causing hemihyperplasia
Author:
Publisher
Elsevier BV
Subject
Radiology Nuclear Medicine and imaging,Dentistry (miscellaneous),Pathology and Forensic Medicine,Oral Surgery,Surgery
Reference12 articles.
1. Beckwith-Wiedemann syndrome;Weksberg;Eur J Hum Genet,2010
2. Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome;Sathienkijkanchai;J Craniofac Surg,2008
3. Tongue reduction in Beckwith-Weidemann syndrome;Kacker;Int J Pediatr Otorhinolaryngol,2000
4. Treatment of macroglossia in Beckwith-Wiedemann syndrome;Clauser;J Craniofac Surg,2006
5. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization;Brioude;Hum Mutat,2015
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1. Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal;Endocrinology;2023-12-23
2. Management of Macroglossia Secondary to Beckwith-Weidmann Syndrome in a Pediatric Patient: A Case Report;Cureus;2023-10-06
3. Beckwith‐Wiedemann syndrome with macroglossia as the most significant manifestation: A case report;Clinical Case Reports;2021-07
4. Macroglossia in Beckwith-Wiedemann Syndrome Is Attributed to Skeletal Muscle Hyperplasia;Case Reports in Dentistry;2020-11-01
5. DNA Methylation in the Diagnosis of Monogenic Diseases;Genes;2020-03-26
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