A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference17 articles.
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3. The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility;Birdi;J. Child Neurol.,2015
4. Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In);Clayton;J. Inherit. Metab. Dis.,2009
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1. Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG;Journal of Biological Chemistry;2024-08
2. The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases;Frontiers in Genetics;2021-08-10
3. COG6‐CDG : Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development;Clinical Genetics;2020-08-04
4. Congenital disorders of N-linked glycosylation;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
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