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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2016
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| Materias: | |
| 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 |