A Novel ANO1 Gene Variant is Associated with Intestinal Dysmotility Syndrome Masquerading as Hirschsprung Disease: A Case Report

Anoctamin 1 (ANO1)-related intestinal dysmotility syndrome (OMIM: 620045) is an extremely rare disorder with only 2 cases reported in the medical literature. We present the clinical scenario of a 2-month-old male infant that presented to our center with diarrhea, vomiting, and abdominal distension....

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Detalles Bibliográficos
Autores principales: Al Sharie, Ahmed H., Abu Mousa, Balqis M., Al Zu’bi, Yazan O., Al Qudah, Mohammad A., Jaradat, Saied A., Barakat, Ahmad, Altamimi, Eyad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187830/
https://www.ncbi.nlm.nih.gov/pubmed/37200714
http://dx.doi.org/10.1097/PG9.0000000000000317

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187830/
https://www.ncbi.nlm.nih.gov/pubmed/37200714
http://dx.doi.org/10.1097/PG9.0000000000000317

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