Author:
Johnsen Christin,Tabatadze Nazi,Radenkovic Silvia,Botzo Grace,Kuschel Bryce,Melikishvili Gia,Morava Eva
Reference27 articles.
1. Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology;Ng;Mol Genet Metab,2024
2. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex;Losfeld;Hum. Mol. Genet.,2014
3. Case report: the novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: a case study and literature review;Wang;Front. Genet.,2022
4. A case of congenital disorder of glycosylation due to SSR4 gene deletion;Weng;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2023
5. Analysis of SSR4 gene variant in a child with congenital glycosylation type 1y in conjunct with congenital dysplasia of external auditory canal;Wu;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2022
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