A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and failure to thrive which may present in the neonatal period. A handful of cases have been reported in the medical literature. We rep...

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Detalles Bibliográficos
Autores principales: Constantinou, Panayiotis, D'Alessandro, Mariella, Lochhead, Paul, Samant, Shalaka, Bisset, W. Michael, Hauptfleisch, Catherine, Dean, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
Materias:
Novel Insights from Clinical Practice
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772619/
https://www.ncbi.nlm.nih.gov/pubmed/26997947
http://dx.doi.org/10.1159/000441134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772619/
https://www.ncbi.nlm.nih.gov/pubmed/26997947
http://dx.doi.org/10.1159/000441134

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