Intestinal Ganglioneuromatosis: Unusual Presentation of Cowden Syndrome Resulting in Delayed Diagnosis
Author:
Affiliation:
1. Department of Pediatrics; Marshfield Clinic; Marshfield, Wisconsin
2. Department of Medical Genetics; Marshfield Clinic; Marshfield, Wisconsin
3. Department of Pathology; Marshfield Clinic; Marshfield, Wisconsin
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35731/fullpdf
Reference13 articles.
1. Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome;Al-Daraji;J Clin Pathol,2007
2. Lipofibromatous hamartoma of nerve;Amadio;J Hand Surg Am,1988
3. Fibrolipomatous hamartoma of nerve;Bibbo;J Foot Ankle Surg,1994
4. Hamartomatous polyps of the colon: Ganglioneuromatous, stromal, and lipomatous;Chan;Arch Pathol Lab Med,2006
5. Cowden syndrome;Eng;J Genet Counsel,1997
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1. A Case Series of Pediatric Intestinal Ganglioneuromatosis With Novel Phenotypic and Genotypic Profile;Frontiers in Medicine;2022-06-16
2. PTEN Hamartoma Syndrome in a Child Presenting With Malrotation, Panintestinal Polyps, Severe Anemia, and Protein-Losing Enteropathy;JPGN Reports;2021-08
3. Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review;Pathology - Research and Practice;2021-02
4. Manifestación inicial atípica de una poliposis poco frecuente, el síndrome de Cowden;Gastroenterología y Hepatología;2018-05
5. Unusual presenting manifestation of a rare polyposis, Cowden syndrome;Gastroenterología y Hepatología (English Edition);2018-05
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