Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

We describe a novel autosomal recessive form of mitochondrial disease in a child with short stature, poor weight gain, and mild dysmorphic features with highly suspected Fanconi anemia due to a mutation in COX4I1 gene. Whole Exome Sequencing was performed then followed by Sanger confirmation, identi...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Abu-Libdeh, Bassam, Douiev, Liza, Amro, Sarah, Shahrour, Maher, Ta-Shma, Asaf, Miller, Chaya, Elpeleg, Orly, Saada, Ann
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602013/
https://ncbi.nlm.nih.gov/pubmed/28766551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.112
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