Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8457338 | Neurologia i Neurochirurgia Polska | 2017 | 4 Pages |
Abstract
In this report, we provide a detailed phenotypic description of a family with a missense mutation in ITPR1. This mutation has only been reported once before. We also provide a literature review of the various phenotypes associated with ITPR1 gene.
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Authors
Joyutpal Das, James Lilleker, Hannah Shereef, John Ealing,