Vol 9: ZEB2, a new candidate gene for asplenia.Reportar como inadecuado



 Vol 9: ZEB2, a new candidate gene for asplenia.


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This article is from Orphanet Journal of Rare Diseases, volume 9.AbstractPrimary asplenia is a rare condition with poorly known etiology. Mowat-Wilson syndrome MWS is characterized by typical facial dysmorphisms, intellectual disability, microcephaly, epilepsy and the possible presence of internal organ malformations. It is caused by heterozygous mutations or deletions in the ZEB2 gene. Nearly 180 patients have been reported to date, but only one with asplenia. We report here spleen hypo-aplasia in 4 out of 6 MWS patients, with severe infectious complications for 3 of them. Our report shows that spleen hypo-aplasia is part of the MWS phenotype and makes ZEB2 a possible candidate gene for primary asplenia.



Autor: Pons, Linda; Dupuis-Girod, Sophie; Cordier, Marie-Pierre; Edery, Patrick; Rossi, Massimiliano

Fuente: https://archive.org/







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