YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference10 articles.
1. ClinGen sequence variant interpretation working group (ClinGen SVI). Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion;Abou Tayoun;Hum. Mutat.,2018
2. Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy;AlMuhaizea;Acta Neuropathol.,2020
3. Yif1B is involved in the anterograde traffic pathway and the Golgi architecture;Alterio;Traffic,2015
4. YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations;Diaz;Brain,2020
5. HGVS recommendations for the description of sequence variants: 2016 update;den Dunnen;Hum. Mutat.,2016
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