Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A

Using whole-exome sequencing, we identified homozygous mutations in two unlinked genes, SEC23A c.1200G>C (p.M400I) and MAN1B1 c.1000C>T (p.R334C), associated with congenital birth defects in two patients from a consanguineous family. Patients presented with carbohydrate-deficient transferrin,...

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Detalles Bibliográficos
Autores principales: Gupta, Swati, Fahiminiya, Somayyeh, Wang, Tracy, Dempsey Nunez, Laura, Rosenblatt, David S., Gibson, William T., Gilfix, Brian, Bergeron, John J. M., Jerome-Majewska, Loydie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853519/
https://www.ncbi.nlm.nih.gov/pubmed/27148587
http://dx.doi.org/10.1101/mcs.a000737

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