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Gastrointestinal Dysmotility Is a Significant Feature in 2 Siblings With a Novel Inositol 1,4,5-Triphosphate Receptor 1 (ITPR1) Missense Variant

We present 2 siblings with a novel type 1 inositol 1,4,5-triphosphate receptor (ITPR1) missense variant who exhibit gastrointestinal dysmotility (chronic constipation and gastroparesis). ITPR1 is expressed in the cerebellum and interstitial cells of Cajal. Periodic release of calcium by ITPR1 initia...

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Detalles Bibliográficos
Autores principales:	Butler Tjaden, Naomi E., Chiou, Eric H., Pillai, Nishitha R., Schady, Deborah A., Chumpitazi, Bruno P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8549690/ https://www.ncbi.nlm.nih.gov/pubmed/34722792 http://dx.doi.org/10.14309/crj.0000000000000676

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