Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

Steatorrhea and malabsorption of lipid-soluble vitamins due to exocrine pancreatic insufficiency are common in patients with cystic fibrosis and are predominant in Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes. In four patients who suffered from congenital exocrine pancreatic in...

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Autores principales: Shteyer, Eyal, Saada, Ann, Shaag, Avraham, Al-Hijawi, Fida' Aziz, Kidess, Rojette, Revel-Vilk, Shoshanah, Elpeleg, Orly
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2009
Materias:
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668012/
https://ncbi.nlm.nih.gov/pubmed/19268275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.02.006
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