Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype

We describe a 27-month-old girl with COG6 deficiency. She is the first child of healthy consanguineous Moroccan parents. She presented at birth with dysmorphic features including microcephaly, post-axial polydactyly, broad palpebral fissures, retrognathia, and anal anteposition. The clinical phenoty...

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Detalhes bibliográficos
Main Authors: Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509899/
https://ncbi.nlm.nih.gov/pubmed/23430903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_79
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