Severe gastrointestinal symptoms caused by a novel DDX3X variant.
This report expands the phenotype caused by DDX3X variants and reveals an important clinical aspect for patients and medical staff.
PMID: 32896648 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Okano S, Miyamoto A, Makita Y, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T Tags: Eur J Med Genet Source Type: research